Genomics Reporting Implementation Guide
1.1.0 - Ballot

This page is part of the Genetic Reporting Implementation Guide (v1.1.0: STU 2 Ballot 1) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

Resource Profile: Variant

Defining URL:http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant
Version:1.1.0
Name:Variant
Status:Active as of 2021-04-13T19:13:37+00:00
Definition:

Details about a set of changes in the tested sample compared to a reference sequence.

Publisher:HL7 International Clinical Genomics Work Group
Copyright:

This material contains content from LOINC (http://loinc.org). LOINC is copyright © 1995-2020, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license at http://loinc.org/license. LOINC® is a registered United States trademark of Regenstrief Institute, Inc.

Source Resource:XML / JSON / Turtle

The official URL for this profile is: 

http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant

This profile allows a full description of the variant found using properties from a variety of testing approaches and allowing for a variety of descriptive mechanisms. Labs are encouraged to populate what properties they know. In future versions of this implementation guide, HL7 may provide additional guidance on what properties should be sent in which situations and may subdivide Variant into multiple sub-profiles with more specific purpose.

Formal Views of Profile Content

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

This structure is derived from GenomicFinding

Summary

Mandatory: 0 element (15 nested mandatory elements)

This structure is derived from GenomicFinding

NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation 0..*GenomicFindingMeasurements and simple assertions
... code 1..1CodeableConceptType of observation (code / type)
Required Pattern: At least the following
.... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
..... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
..... code1..1codeSymbol in syntax defined by the system
Fixed Value: 69548-6
... valueCodeableConcept 0..1CodeableConceptActual result
Binding: LOINC Answer List LL1971-2 (required)
... method 0..1CodeableConceptHow it was done
Binding: LOINC Answer List LL4048-6 (extensible)
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48004-6
.... value[x] 1..1CodeableConceptActual component result
Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
... component:dna-chg-type 0..1BackboneElementDNA Change Type
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48019-4
.... value[x] 1..1CodeableConceptConcepts in sequence ontology under SO:0002072 (see http://www.sequenceontology.org/browser/current_release/term/SO:0002072).
Binding: DNA Change Type (extensible)
... component:molecular-consequence 0..1BackboneElementMolecular Consequence
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: molecular-consequence
.... value[x] 1..1CodeableConceptConcepts in sequence ontology under SO:0001537 (see http://www.sequenceontology.org/browser/current_release/term/SO:0001537).
Binding: Molecular Consequence (extensible)
... component:variation-code 0..1BackboneElementVariation Code
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81252-9
.... value[x] 1..1CodeableConceptActual component result
Binding: (unbound) (example): Multiple bindings acceptable

... component:genomic-dna-chg 0..1BackboneElementDNA Change - Genomic (gHGVS)
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81290-9
.... value[x] 1..1CodeableConceptActual component result
Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
... component:genomic-source-class 0..1BackboneElementGenomic Source Class
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48002-0
.... value[x] 1..1CodeableConceptActual component result
Binding: LOINC Answer List LL378-1 (extensible)
... component:amino-acid-chg 0..1BackboneElementAmino acid change (pHGVS)
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48005-3
.... value[x] 1..1CodeableConceptActual component result
Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
... component:amino-acid-chg-type 0..1BackboneElementAmino acid change type
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48006-1
.... value[x] 1..1CodeableConceptActual component result
Binding: LOINC Answer List LL380-7 (extensible)
... component:transcript-ref-seq 0..1BackboneElementTranscript reference sequence ID
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 51958-7
.... value[x] 1..1CodeableConceptActual component result
Binding: (unbound) (example): Multiple bindings acceptable

... component:genomic-ref-seq 0..1BackboneElementGenomic reference sequence ID
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48013-7
.... value[x] 1..1CodeableConceptActual component result
Binding: (unbound) (example): Multiple bindings acceptable

... component:sample-allelic-frequency 0..1BackboneElementSample Allelic Frequency
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81258-6
.... value[x] 0..1QuantityActual component result
..... system 0..1uriSystem that defines coded unit form
Required Pattern: http://unitsofmeasure.org
... component:allelic-read-depth 0..1BackboneElementAllelic read depth
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 82121-5
.... value[x] 0..1QuantityActual component result
... component:allelic-state 0..1BackboneElementAllelic state
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 53034-5
.... value[x] 1..1CodeableConceptActual component result
Binding: LOINC Answer List LL381-5 (extensible)
... component:copy-number 0..1BackboneElementGenomic structural variant copy number
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 82155-3
.... value[x] I0..1QuantityActual 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:ref-allele 0..1BackboneElementGenomic ref allele
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 69547-8
.... value[x] 0..1stringActual component result
... component:alt-allele 0..1BackboneElementGenomic alt allele
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 69551-0
.... value[x] 0..1stringActual component result
... component:coordinate-system 0..1BackboneElementCoordinate System
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 92822-6
.... value[x] 1..1CodeableConceptActual component result
Binding: LOINC Answer List LL5323-2 (extensible)
... component:exact-start-end 0..1BackboneElementExact start-end
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: exact-start-end
.... value[x] 0..1RangeActual component result
... component:outer-start-end 0..1BackboneElementVariant outer start and end
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: outer-start-end
.... value[x] 0..1RangeActual component result
... component:inner-start-end 0..1BackboneElementVariant inner start and end
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: inner-start-end
.... value[x] 0..1RangeActual component result
... component:cytogenomic-nomenclature 0..1BackboneElementCytogenomic Nomenclature
.... code 1..1CodeableConceptVariant ISCN
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81291-7
.... value[x] 1..1CodeableConceptActual component result
Binding: (unbound) (example): Binding not yet defined

... component:variant-inheritance 0..1BackboneElementVariant Inheritance
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: variant-inheritance
.... value[x] 1..1CodeableConceptActual component result
Binding: Variant Inheritance (extensible)
... component:chromosome-identifier 0..*BackboneElementChromosome Identifier
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48000-4
.... value[x] 1..1CodeableConceptActual component result
Binding: LOINC Answer List LL2938-0 (required)

doco Documentation for this format
NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation I0..*GenomicFindingMeasurements and simple assertions
... id Σ0..1stringLogical id of this artifact
... meta Σ0..1MetaMetadata about the resource
... implicitRules ?!Σ0..1uriA set of rules under which this content was created
... language 0..1codeLanguage of the resource content
Binding: CommonLanguages (preferred)
Max Binding: AllLanguages: A human language.

... text 0..1NarrativeText summary of the resource, for human interpretation
... contained 0..*ResourceContained, inline Resources
... extension 0..*ExtensionExtension
Slice: Unordered, Open by value:url
... observation-secondaryFinding 0..1CodeableConceptSecondary 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: ObservationCategoryCodes (extensible): Codes to denote a guideline or policy statement.when a genetic test result is being shared as a secondary finding.


... bodySite 0..1Reference(BodyStructure)Target anatomic location or structure
URL: http://hl7.org/fhir/StructureDefinition/bodySite
... modifierExtension ?!0..*ExtensionExtensions that cannot be ignored
... identifier Σ0..*IdentifierBusiness Identifier for observation
... basedOn Σ0..*Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest)Fulfills plan, proposal or order
... partOf Σ0..*Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy)Part of referenced event
... status ?!Σ1..1coderegistered | preliminary | final | amended +
Binding: ObservationStatus (required): Codes providing the status of an observation.

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


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


..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
Slice: Unordered, Open by value:url
..... coding Σ1..*CodingCode defined by a terminology system

Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... system1..1uriIdentity of the terminology system
Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
...... version0..1stringVersion of the system - if relevant
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: laboratory
...... display0..1stringRepresentation defined by the system
...... userSelected0..1booleanIf this coding was chosen directly by the user
..... text Σ0..1stringPlain text representation of the concept
... code Σ1..1CodeableConceptType of observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
.... id0..1stringUnique id for inter-element referencing
.... extension0..*ExtensionAdditional content defined by implementations
.... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
..... id0..1stringUnique id for inter-element referencing
..... extension0..*ExtensionAdditional content defined by implementations
..... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
..... version0..1stringVersion of the system - if relevant
..... code1..1codeSymbol in syntax defined by the system
Fixed Value: 69548-6
..... display0..1stringRepresentation defined by the system
..... userSelected0..1booleanIf this coding was chosen directly by the user
.... text0..1stringPlain text representation of the concept
... subject Σ0..1Reference(Patient | Group | Location)Who and/or what the observation is about
... focus Σ0..*Reference(Resource)What the observation is about, when it is not about the subject of record
... encounter Σ0..1Reference(Encounter)Healthcare event during which this observation is made
... effective[x] Σ0..1Clinically relevant time/time-period for observation
.... effectiveDateTimedateTime
.... effectivePeriodPeriod
.... effectiveTimingTiming
.... effectiveInstantinstant
... issued Σ0..1instantDate/Time this version was made available
... performer Σ0..1Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson)Who is responsible for the observation
... value[x] ΣI0..1(Slice Definition)Actual result
Slice: Unordered, Closed by type:$this
.... value[x]:valueCodeableConcept ΣI0..1CodeableConceptActual result
Binding: LOINC Answer List LL1971-2 (required)
... dataAbsentReason I0..1CodeableConceptWhy the result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


... note 0..*AnnotationComments about the observation
... bodySite 0..1CodeableConceptObserved body part
Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality.

... method 0..1CodeableConceptHow it was done
Binding: LOINC Answer List LL4048-6 (extensible)
... specimen 0..1Reference(Genomics specimen)Specimen used for this observation
... device 0..1Reference(Device | DeviceMetric)(Measurement) Device
... referenceRange I0..*BackboneElementProvides guide for interpretation
obs-3: Must have at least a low or a high or text
.... id 0..1stringUnique id for inter-element referencing
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
.... low I0..1SimpleQuantityLow Range, if relevant
.... high I0..1SimpleQuantityHigh Range, if relevant
.... type 0..1CodeableConceptReference range qualifier
Binding: ObservationReferenceRangeMeaningCodes (preferred): Code for the meaning of a reference range.

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


.... age 0..1RangeApplicable age range, if relevant
.... text 0..1stringText based reference range in an observation
... hasMember Σ0..*Reference(Observation | QuestionnaireResponse | MolecularSequence)Related resource that belongs to the Observation group
... derivedFrom Σ0..*Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence)Related measurements the observation is made from
... component Σ0..*(Slice Definition)Component results
Slice: Unordered, Open by pattern:code
.... component:All Slices Content/Rules for all slices
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.

..... value[x] Σ0..1Actual component result
...... valueQuantityQuantity
...... valueCodeableConceptCodeableConcept
...... valueStringstring
...... valueBooleanboolean
...... valueIntegerinteger
...... valueRangeRange
...... valueRatioRatio
...... valueSampledDataSampledData
...... valueTimetime
...... valueDateTimedateTime
...... valuePeriodPeriod
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementClinical conclusion (interpretation) of the observation
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: conclusion-string
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ0..1stringActual component result
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..*BackboneElementGene studied [ID]
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48018-6
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptIf no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used.
Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:CytogenicLocation Σ0..*BackboneElementCytogenetic (chromosome) location
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48001-2
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptActual component result
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:RefSequenceAssembly Σ0..*BackboneElementHuman reference sequence assembly version
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 62374-4
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptActual component result
Binding: LOINC Answer List LL1040-6 (extensible)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:dna-chg Σ0..1BackboneElementDNA Change - Transcript (cHGVS)
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48004-6
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptActual component result
Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:dna-chg-type Σ0..1BackboneElementDNA Change Type
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48019-4
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptConcepts in sequence ontology under SO:0002072 (see http://www.sequenceontology.org/browser/current_release/term/SO:0002072).
Binding: DNA Change Type (extensible)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:molecular-consequence Σ0..1BackboneElementMolecular Consequence
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: molecular-consequence
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptConcepts in sequence ontology under SO:0001537 (see http://www.sequenceontology.org/browser/current_release/term/SO:0001537).
Binding: Molecular Consequence (extensible)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:variation-code Σ0..1BackboneElementVariation Code
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81252-9
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptActual component result
Binding: (unbound) (example): Multiple bindings acceptable

..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:genomic-dna-chg Σ0..1BackboneElementDNA Change - Genomic (gHGVS)
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81290-9
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptActual component result
Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:genomic-source-class Σ0..1BackboneElementGenomic Source Class
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48002-0
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptActual component result
Binding: LOINC Answer List LL378-1 (extensible)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:amino-acid-chg Σ0..1BackboneElementAmino acid change (pHGVS)
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48005-3
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptActual component result
Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:amino-acid-chg-type Σ0..1BackboneElementAmino acid change type
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48006-1
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptActual component result
Binding: LOINC Answer List LL380-7 (extensible)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:transcript-ref-seq Σ0..1BackboneElementTranscript reference sequence ID
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 51958-7
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptActual component result
Binding: (unbound) (example): Multiple bindings acceptable

..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:genomic-ref-seq Σ0..1BackboneElementGenomic reference sequence ID
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48013-7
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptActual component result
Binding: (unbound) (example): Multiple bindings acceptable

..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:sample-allelic-frequency Σ0..1BackboneElementSample Allelic Frequency
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81258-6
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ0..1QuantityActual component result
...... id 0..1stringUnique id for inter-element referencing
...... extension 0..*ExtensionAdditional content defined by implementations
Slice: Unordered, Open by value:url
...... value Σ0..1decimalNumerical value (with implicit precision)
...... comparator ?!Σ0..1code< | <= | >= | > - how to understand the value
Binding: QuantityComparator (required): How the Quantity should be understood and represented.

...... unit Σ0..1stringUnit representation
...... system ΣI0..1uriSystem that defines coded unit form
Required Pattern: http://unitsofmeasure.org
...... code Σ0..1codeCoded form of the unit
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:allelic-read-depth Σ0..1BackboneElementAllelic read depth
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 82121-5
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ0..1QuantityActual component result
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:allelic-state Σ0..1BackboneElementAllelic state
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 53034-5
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptActual component result
Binding: LOINC Answer List LL381-5 (extensible)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:copy-number Σ0..1BackboneElementGenomic structural variant copy number
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 82155-3
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] ΣI0..1QuantityActual 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.
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:ref-allele Σ0..1BackboneElementGenomic ref allele
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 69547-8
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ0..1stringActual component result
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:alt-allele Σ0..1BackboneElementGenomic alt allele
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 69551-0
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ0..1stringActual component result
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:coordinate-system Σ0..1BackboneElementCoordinate System
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 92822-6
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptActual component result
Binding: LOINC Answer List LL5323-2 (extensible)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:exact-start-end Σ0..1BackboneElementExact start-end
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: exact-start-end
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ0..1RangeActual component result
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:outer-start-end Σ0..1BackboneElementVariant outer start and end
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: outer-start-end
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ0..1RangeActual component result
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:inner-start-end Σ0..1BackboneElementVariant inner start and end
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: inner-start-end
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ0..1RangeActual component result
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:cytogenomic-nomenclature Σ0..1BackboneElementCytogenomic Nomenclature
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptVariant ISCN
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81291-7
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptActual component result
Binding: (unbound) (example): Binding not yet defined

..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:variant-inheritance Σ0..1BackboneElementVariant Inheritance
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: variant-inheritance
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptActual component result
Binding: Variant Inheritance (extensible)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:chromosome-identifier Σ0..*BackboneElementChromosome Identifier
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48000-4
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptActual component result
Binding: LOINC Answer List LL2938-0 (required)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result

doco Documentation for this format

This structure is derived from GenomicFinding

Summary

Mandatory: 0 element (15 nested mandatory elements)

Differential View

This structure is derived from GenomicFinding

NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation 0..*GenomicFindingMeasurements and simple assertions
... code 1..1CodeableConceptType of observation (code / type)
Required Pattern: At least the following
.... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
..... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
..... code1..1codeSymbol in syntax defined by the system
Fixed Value: 69548-6
... valueCodeableConcept 0..1CodeableConceptActual result
Binding: LOINC Answer List LL1971-2 (required)
... method 0..1CodeableConceptHow it was done
Binding: LOINC Answer List LL4048-6 (extensible)
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48004-6
.... value[x] 1..1CodeableConceptActual component result
Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
... component:dna-chg-type 0..1BackboneElementDNA Change Type
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48019-4
.... value[x] 1..1CodeableConceptConcepts in sequence ontology under SO:0002072 (see http://www.sequenceontology.org/browser/current_release/term/SO:0002072).
Binding: DNA Change Type (extensible)
... component:molecular-consequence 0..1BackboneElementMolecular Consequence
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: molecular-consequence
.... value[x] 1..1CodeableConceptConcepts in sequence ontology under SO:0001537 (see http://www.sequenceontology.org/browser/current_release/term/SO:0001537).
Binding: Molecular Consequence (extensible)
... component:variation-code 0..1BackboneElementVariation Code
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81252-9
.... value[x] 1..1CodeableConceptActual component result
Binding: (unbound) (example): Multiple bindings acceptable

... component:genomic-dna-chg 0..1BackboneElementDNA Change - Genomic (gHGVS)
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81290-9
.... value[x] 1..1CodeableConceptActual component result
Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
... component:genomic-source-class 0..1BackboneElementGenomic Source Class
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48002-0
.... value[x] 1..1CodeableConceptActual component result
Binding: LOINC Answer List LL378-1 (extensible)
... component:amino-acid-chg 0..1BackboneElementAmino acid change (pHGVS)
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48005-3
.... value[x] 1..1CodeableConceptActual component result
Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
... component:amino-acid-chg-type 0..1BackboneElementAmino acid change type
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48006-1
.... value[x] 1..1CodeableConceptActual component result
Binding: LOINC Answer List LL380-7 (extensible)
... component:transcript-ref-seq 0..1BackboneElementTranscript reference sequence ID
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 51958-7
.... value[x] 1..1CodeableConceptActual component result
Binding: (unbound) (example): Multiple bindings acceptable

... component:genomic-ref-seq 0..1BackboneElementGenomic reference sequence ID
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48013-7
.... value[x] 1..1CodeableConceptActual component result
Binding: (unbound) (example): Multiple bindings acceptable

... component:sample-allelic-frequency 0..1BackboneElementSample Allelic Frequency
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81258-6
.... value[x] 0..1QuantityActual component result
..... system 0..1uriSystem that defines coded unit form
Required Pattern: http://unitsofmeasure.org
... component:allelic-read-depth 0..1BackboneElementAllelic read depth
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 82121-5
.... value[x] 0..1QuantityActual component result
... component:allelic-state 0..1BackboneElementAllelic state
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 53034-5
.... value[x] 1..1CodeableConceptActual component result
Binding: LOINC Answer List LL381-5 (extensible)
... component:copy-number 0..1BackboneElementGenomic structural variant copy number
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 82155-3
.... value[x] I0..1QuantityActual 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:ref-allele 0..1BackboneElementGenomic ref allele
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 69547-8
.... value[x] 0..1stringActual component result
... component:alt-allele 0..1BackboneElementGenomic alt allele
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 69551-0
.... value[x] 0..1stringActual component result
... component:coordinate-system 0..1BackboneElementCoordinate System
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 92822-6
.... value[x] 1..1CodeableConceptActual component result
Binding: LOINC Answer List LL5323-2 (extensible)
... component:exact-start-end 0..1BackboneElementExact start-end
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: exact-start-end
.... value[x] 0..1RangeActual component result
... component:outer-start-end 0..1BackboneElementVariant outer start and end
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: outer-start-end
.... value[x] 0..1RangeActual component result
... component:inner-start-end 0..1BackboneElementVariant inner start and end
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: inner-start-end
.... value[x] 0..1RangeActual component result
... component:cytogenomic-nomenclature 0..1BackboneElementCytogenomic Nomenclature
.... code 1..1CodeableConceptVariant ISCN
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81291-7
.... value[x] 1..1CodeableConceptActual component result
Binding: (unbound) (example): Binding not yet defined

... component:variant-inheritance 0..1BackboneElementVariant Inheritance
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: variant-inheritance
.... value[x] 1..1CodeableConceptActual component result
Binding: Variant Inheritance (extensible)
... component:chromosome-identifier 0..*BackboneElementChromosome Identifier
.... code 1..1CodeableConceptType of component observation (code / type)
Required Pattern: At least the following
..... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
...... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48000-4
.... value[x] 1..1CodeableConceptActual component result
Binding: LOINC Answer List LL2938-0 (required)

doco Documentation for this format

Snapshot View

NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation I0..*GenomicFindingMeasurements and simple assertions
... id Σ0..1stringLogical id of this artifact
... meta Σ0..1MetaMetadata about the resource
... implicitRules ?!Σ0..1uriA set of rules under which this content was created
... language 0..1codeLanguage of the resource content
Binding: CommonLanguages (preferred)
Max Binding: AllLanguages: A human language.

... text 0..1NarrativeText summary of the resource, for human interpretation
... contained 0..*ResourceContained, inline Resources
... extension 0..*ExtensionExtension
Slice: Unordered, Open by value:url
... observation-secondaryFinding 0..1CodeableConceptSecondary 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: ObservationCategoryCodes (extensible): Codes to denote a guideline or policy statement.when a genetic test result is being shared as a secondary finding.


... bodySite 0..1Reference(BodyStructure)Target anatomic location or structure
URL: http://hl7.org/fhir/StructureDefinition/bodySite
... modifierExtension ?!0..*ExtensionExtensions that cannot be ignored
... identifier Σ0..*IdentifierBusiness Identifier for observation
... basedOn Σ0..*Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest)Fulfills plan, proposal or order
... partOf Σ0..*Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy)Part of referenced event
... status ?!Σ1..1coderegistered | preliminary | final | amended +
Binding: ObservationStatus (required): Codes providing the status of an observation.

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


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


..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
Slice: Unordered, Open by value:url
..... coding Σ1..*CodingCode defined by a terminology system

Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... system1..1uriIdentity of the terminology system
Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category
...... version0..1stringVersion of the system - if relevant
...... code1..1codeSymbol in syntax defined by the system
Fixed Value: laboratory
...... display0..1stringRepresentation defined by the system
...... userSelected0..1booleanIf this coding was chosen directly by the user
..... text Σ0..1stringPlain text representation of the concept
... code Σ1..1CodeableConceptType of observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
.... id0..1stringUnique id for inter-element referencing
.... extension0..*ExtensionAdditional content defined by implementations
.... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
..... id0..1stringUnique id for inter-element referencing
..... extension0..*ExtensionAdditional content defined by implementations
..... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
..... version0..1stringVersion of the system - if relevant
..... code1..1codeSymbol in syntax defined by the system
Fixed Value: 69548-6
..... display0..1stringRepresentation defined by the system
..... userSelected0..1booleanIf this coding was chosen directly by the user
.... text0..1stringPlain text representation of the concept
... subject Σ0..1Reference(Patient | Group | Location)Who and/or what the observation is about
... focus Σ0..*Reference(Resource)What the observation is about, when it is not about the subject of record
... encounter Σ0..1Reference(Encounter)Healthcare event during which this observation is made
... effective[x] Σ0..1Clinically relevant time/time-period for observation
.... effectiveDateTimedateTime
.... effectivePeriodPeriod
.... effectiveTimingTiming
.... effectiveInstantinstant
... issued Σ0..1instantDate/Time this version was made available
... performer Σ0..1Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson)Who is responsible for the observation
... value[x] ΣI0..1(Slice Definition)Actual result
Slice: Unordered, Closed by type:$this
.... value[x]:valueCodeableConcept ΣI0..1CodeableConceptActual result
Binding: LOINC Answer List LL1971-2 (required)
... dataAbsentReason I0..1CodeableConceptWhy the result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


... note 0..*AnnotationComments about the observation
... bodySite 0..1CodeableConceptObserved body part
Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality.

... method 0..1CodeableConceptHow it was done
Binding: LOINC Answer List LL4048-6 (extensible)
... specimen 0..1Reference(Genomics specimen)Specimen used for this observation
... device 0..1Reference(Device | DeviceMetric)(Measurement) Device
... referenceRange I0..*BackboneElementProvides guide for interpretation
obs-3: Must have at least a low or a high or text
.... id 0..1stringUnique id for inter-element referencing
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
.... low I0..1SimpleQuantityLow Range, if relevant
.... high I0..1SimpleQuantityHigh Range, if relevant
.... type 0..1CodeableConceptReference range qualifier
Binding: ObservationReferenceRangeMeaningCodes (preferred): Code for the meaning of a reference range.

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


.... age 0..1RangeApplicable age range, if relevant
.... text 0..1stringText based reference range in an observation
... hasMember Σ0..*Reference(Observation | QuestionnaireResponse | MolecularSequence)Related resource that belongs to the Observation group
... derivedFrom Σ0..*Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence)Related measurements the observation is made from
... component Σ0..*(Slice Definition)Component results
Slice: Unordered, Open by pattern:code
.... component:All Slices Content/Rules for all slices
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.

..... value[x] Σ0..1Actual component result
...... valueQuantityQuantity
...... valueCodeableConceptCodeableConcept
...... valueStringstring
...... valueBooleanboolean
...... valueIntegerinteger
...... valueRangeRange
...... valueRatioRatio
...... valueSampledDataSampledData
...... valueTimetime
...... valueDateTimedateTime
...... valuePeriodPeriod
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..1BackboneElementClinical conclusion (interpretation) of the observation
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: conclusion-string
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ0..1stringActual component result
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

..... interpretation 0..*CodeableConceptHigh, 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 Σ0..*BackboneElementGene studied [ID]
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48018-6
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptIf no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used.
Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:CytogenicLocation Σ0..*BackboneElementCytogenetic (chromosome) location
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48001-2
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptActual component result
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:RefSequenceAssembly Σ0..*BackboneElementHuman reference sequence assembly version
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 62374-4
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptActual component result
Binding: LOINC Answer List LL1040-6 (extensible)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:dna-chg Σ0..1BackboneElementDNA Change - Transcript (cHGVS)
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48004-6
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptActual component result
Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:dna-chg-type Σ0..1BackboneElementDNA Change Type
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48019-4
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptConcepts in sequence ontology under SO:0002072 (see http://www.sequenceontology.org/browser/current_release/term/SO:0002072).
Binding: DNA Change Type (extensible)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:molecular-consequence Σ0..1BackboneElementMolecular Consequence
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: molecular-consequence
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptConcepts in sequence ontology under SO:0001537 (see http://www.sequenceontology.org/browser/current_release/term/SO:0001537).
Binding: Molecular Consequence (extensible)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:variation-code Σ0..1BackboneElementVariation Code
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81252-9
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptActual component result
Binding: (unbound) (example): Multiple bindings acceptable

..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:genomic-dna-chg Σ0..1BackboneElementDNA Change - Genomic (gHGVS)
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81290-9
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptActual component result
Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:genomic-source-class Σ0..1BackboneElementGenomic Source Class
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48002-0
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptActual component result
Binding: LOINC Answer List LL378-1 (extensible)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:amino-acid-chg Σ0..1BackboneElementAmino acid change (pHGVS)
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48005-3
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptActual component result
Binding: Human Genome Variation Society (HGVS) Nomenclature (required)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:amino-acid-chg-type Σ0..1BackboneElementAmino acid change type
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48006-1
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptActual component result
Binding: LOINC Answer List LL380-7 (extensible)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:transcript-ref-seq Σ0..1BackboneElementTranscript reference sequence ID
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 51958-7
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptActual component result
Binding: (unbound) (example): Multiple bindings acceptable

..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:genomic-ref-seq Σ0..1BackboneElementGenomic reference sequence ID
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48013-7
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptActual component result
Binding: (unbound) (example): Multiple bindings acceptable

..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:sample-allelic-frequency Σ0..1BackboneElementSample Allelic Frequency
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81258-6
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ0..1QuantityActual component result
...... id 0..1stringUnique id for inter-element referencing
...... extension 0..*ExtensionAdditional content defined by implementations
Slice: Unordered, Open by value:url
...... value Σ0..1decimalNumerical value (with implicit precision)
...... comparator ?!Σ0..1code< | <= | >= | > - how to understand the value
Binding: QuantityComparator (required): How the Quantity should be understood and represented.

...... unit Σ0..1stringUnit representation
...... system ΣI0..1uriSystem that defines coded unit form
Required Pattern: http://unitsofmeasure.org
...... code Σ0..1codeCoded form of the unit
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:allelic-read-depth Σ0..1BackboneElementAllelic read depth
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 82121-5
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ0..1QuantityActual component result
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:allelic-state Σ0..1BackboneElementAllelic state
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 53034-5
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptActual component result
Binding: LOINC Answer List LL381-5 (extensible)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:copy-number Σ0..1BackboneElementGenomic structural variant copy number
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 82155-3
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] ΣI0..1QuantityActual 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.
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:ref-allele Σ0..1BackboneElementGenomic ref allele
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 69547-8
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ0..1stringActual component result
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:alt-allele Σ0..1BackboneElementGenomic alt allele
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 69551-0
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ0..1stringActual component result
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:coordinate-system Σ0..1BackboneElementCoordinate System
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 92822-6
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptActual component result
Binding: LOINC Answer List LL5323-2 (extensible)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:exact-start-end Σ0..1BackboneElementExact start-end
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: exact-start-end
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ0..1RangeActual component result
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:outer-start-end Σ0..1BackboneElementVariant outer start and end
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: outer-start-end
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ0..1RangeActual component result
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:inner-start-end Σ0..1BackboneElementVariant inner start and end
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: inner-start-end
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ0..1RangeActual component result
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:cytogenomic-nomenclature Σ0..1BackboneElementCytogenomic Nomenclature
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptVariant ISCN
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 81291-7
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptActual component result
Binding: (unbound) (example): Binding not yet defined

..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:variant-inheritance Σ0..1BackboneElementVariant Inheritance
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: variant-inheritance
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptActual component result
Binding: Variant Inheritance (extensible)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result
.... component:chromosome-identifier Σ0..*BackboneElementChromosome Identifier
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
..... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
..... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
...... id0..1stringUnique id for inter-element referencing
...... extension0..*ExtensionAdditional content defined by implementations
...... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
....... id0..1stringUnique id for inter-element referencing
....... extension0..*ExtensionAdditional content defined by implementations
....... system1..1uriIdentity of the terminology system
Fixed Value: http://loinc.org
....... version0..1stringVersion of the system - if relevant
....... code1..1codeSymbol in syntax defined by the system
Fixed Value: 48000-4
....... display0..1stringRepresentation defined by the system
....... userSelected0..1booleanIf this coding was chosen directly by the user
...... text0..1stringPlain text representation of the concept
..... value[x] Σ1..1CodeableConceptActual component result
Binding: LOINC Answer List LL2938-0 (required)
..... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

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


..... referenceRange 0..*See referenceRange (Observation)Provides guide for interpretation of component result

doco Documentation for this format

 

Other representations of profile: Schematron

Terminology Bindings

PathConformanceValueSet / Code
Observation.languagepreferredCommonLanguages
Max Binding: AllLanguages
Observation.statusrequiredObservationStatus
Observation.categorypreferredObservationCategoryCodes
Observation.category:labCategorypreferredObservationCategoryCodes
Observation.codeexamplePattern: LOINC code 69548-6
Observation.value[x]:valueCodeableConceptrequiredLOINC LL1971-2
Observation.dataAbsentReasonextensibleDataAbsentReason
Observation.interpretationextensibleObservationInterpretationCodes
Observation.bodySiteexampleSNOMEDCTBodyStructures
Observation.methodextensibleLOINC LL4048-6
Observation.referenceRange.typepreferredObservationReferenceRangeMeaningCodes
Observation.referenceRange.appliesToexampleObservationReferenceRangeAppliesToCodes
Observation.component.codeexampleLOINCCodes
Observation.component.dataAbsentReasonextensibleDataAbsentReason
Observation.component.interpretationextensibleObservationInterpretationCodes
Observation.component:conclusion-string.codeexamplePattern: conclusion-string
Observation.component:conclusion-string.dataAbsentReasonextensibleDataAbsentReason
Observation.component:conclusion-string.interpretationextensibleObservationInterpretationCodes
Observation.component:gene-studied.codeexamplePattern: LOINC code 48018-6
Observation.component:gene-studied.value[x]extensibleHGNCVS
Observation.component:gene-studied.dataAbsentReasonextensibleDataAbsentReason
Observation.component:gene-studied.interpretationextensibleObservationInterpretationCodes
Observation.component:CytogenicLocation.codeexamplePattern: LOINC code 48001-2
Observation.component:CytogenicLocation.dataAbsentReasonextensibleDataAbsentReason
Observation.component:CytogenicLocation.interpretationextensibleObservationInterpretationCodes
Observation.component:RefSequenceAssembly.codeexamplePattern: LOINC code 62374-4
Observation.component:RefSequenceAssembly.value[x]extensibleLOINC LL1040-6
Observation.component:RefSequenceAssembly.dataAbsentReasonextensibleDataAbsentReason
Observation.component:RefSequenceAssembly.interpretationextensibleObservationInterpretationCodes
Observation.component:dna-chg.codeexamplePattern: LOINC code 48004-6
Observation.component:dna-chg.value[x]requiredHGVSVS
Observation.component:dna-chg.dataAbsentReasonextensibleDataAbsentReason
Observation.component:dna-chg.interpretationextensibleObservationInterpretationCodes
Observation.component:dna-chg-type.codeexamplePattern: LOINC code 48019-4
Observation.component:dna-chg-type.value[x]extensibleDNAChangeTypeVS
Observation.component:dna-chg-type.dataAbsentReasonextensibleDataAbsentReason
Observation.component:dna-chg-type.interpretationextensibleObservationInterpretationCodes
Observation.component:molecular-consequence.codeexamplePattern: molecular-consequence
Observation.component:molecular-consequence.value[x]extensibleMolecularConsequenceVS
Observation.component:molecular-consequence.dataAbsentReasonextensibleDataAbsentReason
Observation.component:molecular-consequence.interpretationextensibleObservationInterpretationCodes
Observation.component:variation-code.codeexamplePattern: LOINC code 81252-9
Observation.component:variation-code.value[x]example
Observation.component:variation-code.dataAbsentReasonextensibleDataAbsentReason
Observation.component:variation-code.interpretationextensibleObservationInterpretationCodes
Observation.component:genomic-dna-chg.codeexamplePattern: LOINC code 81290-9
Observation.component:genomic-dna-chg.value[x]requiredHGVSVS
Observation.component:genomic-dna-chg.dataAbsentReasonextensibleDataAbsentReason
Observation.component:genomic-dna-chg.interpretationextensibleObservationInterpretationCodes
Observation.component:genomic-source-class.codeexamplePattern: LOINC code 48002-0
Observation.component:genomic-source-class.value[x]extensibleLOINC LL378-1
Observation.component:genomic-source-class.dataAbsentReasonextensibleDataAbsentReason
Observation.component:genomic-source-class.interpretationextensibleObservationInterpretationCodes
Observation.component:amino-acid-chg.codeexamplePattern: LOINC code 48005-3
Observation.component:amino-acid-chg.value[x]requiredHGVSVS
Observation.component:amino-acid-chg.dataAbsentReasonextensibleDataAbsentReason
Observation.component:amino-acid-chg.interpretationextensibleObservationInterpretationCodes
Observation.component:amino-acid-chg-type.codeexamplePattern: LOINC code 48006-1
Observation.component:amino-acid-chg-type.value[x]extensibleLOINC LL380-7
Observation.component:amino-acid-chg-type.dataAbsentReasonextensibleDataAbsentReason
Observation.component:amino-acid-chg-type.interpretationextensibleObservationInterpretationCodes
Observation.component:transcript-ref-seq.codeexamplePattern: LOINC code 51958-7
Observation.component:transcript-ref-seq.value[x]example
Observation.component:transcript-ref-seq.dataAbsentReasonextensibleDataAbsentReason
Observation.component:transcript-ref-seq.interpretationextensibleObservationInterpretationCodes
Observation.component:genomic-ref-seq.codeexamplePattern: LOINC code 48013-7
Observation.component:genomic-ref-seq.value[x]example
Observation.component:genomic-ref-seq.dataAbsentReasonextensibleDataAbsentReason
Observation.component:genomic-ref-seq.interpretationextensibleObservationInterpretationCodes
Observation.component:sample-allelic-frequency.codeexamplePattern: LOINC code 81258-6
Observation.component:sample-allelic-frequency.value[x].comparatorrequiredQuantityComparator
Observation.component:sample-allelic-frequency.dataAbsentReasonextensibleDataAbsentReason
Observation.component:sample-allelic-frequency.interpretationextensibleObservationInterpretationCodes
Observation.component:allelic-read-depth.codeexamplePattern: LOINC code 82121-5
Observation.component:allelic-read-depth.dataAbsentReasonextensibleDataAbsentReason
Observation.component:allelic-read-depth.interpretationextensibleObservationInterpretationCodes
Observation.component:allelic-state.codeexamplePattern: LOINC code 53034-5
Observation.component:allelic-state.value[x]extensibleLOINC LL381-5
Observation.component:allelic-state.dataAbsentReasonextensibleDataAbsentReason
Observation.component:allelic-state.interpretationextensibleObservationInterpretationCodes
Observation.component:copy-number.codeexamplePattern: LOINC code 82155-3
Observation.component:copy-number.dataAbsentReasonextensibleDataAbsentReason
Observation.component:copy-number.interpretationextensibleObservationInterpretationCodes
Observation.component:ref-allele.codeexamplePattern: LOINC code 69547-8
Observation.component:ref-allele.dataAbsentReasonextensibleDataAbsentReason
Observation.component:ref-allele.interpretationextensibleObservationInterpretationCodes
Observation.component:alt-allele.codeexamplePattern: LOINC code 69551-0
Observation.component:alt-allele.dataAbsentReasonextensibleDataAbsentReason
Observation.component:alt-allele.interpretationextensibleObservationInterpretationCodes
Observation.component:coordinate-system.codeexamplePattern: LOINC code 92822-6
Observation.component:coordinate-system.value[x]extensibleLOINC LL5323-2
Observation.component:coordinate-system.dataAbsentReasonextensibleDataAbsentReason
Observation.component:coordinate-system.interpretationextensibleObservationInterpretationCodes
Observation.component:exact-start-end.codeexamplePattern: exact-start-end
Observation.component:exact-start-end.dataAbsentReasonextensibleDataAbsentReason
Observation.component:exact-start-end.interpretationextensibleObservationInterpretationCodes
Observation.component:outer-start-end.codeexamplePattern: outer-start-end
Observation.component:outer-start-end.dataAbsentReasonextensibleDataAbsentReason
Observation.component:outer-start-end.interpretationextensibleObservationInterpretationCodes
Observation.component:inner-start-end.codeexamplePattern: inner-start-end
Observation.component:inner-start-end.dataAbsentReasonextensibleDataAbsentReason
Observation.component:inner-start-end.interpretationextensibleObservationInterpretationCodes
Observation.component:cytogenomic-nomenclature.codeexamplePattern: LOINC code 81291-7
Observation.component:cytogenomic-nomenclature.value[x]example
Observation.component:cytogenomic-nomenclature.dataAbsentReasonextensibleDataAbsentReason
Observation.component:cytogenomic-nomenclature.interpretationextensibleObservationInterpretationCodes
Observation.component:variant-inheritance.codeexamplePattern: variant-inheritance
Observation.component:variant-inheritance.value[x]extensibleVariantInheritanceVS
Observation.component:variant-inheritance.dataAbsentReasonextensibleDataAbsentReason
Observation.component:variant-inheritance.interpretationextensibleObservationInterpretationCodes
Observation.component:chromosome-identifier.codeexamplePattern: LOINC code 48000-4
Observation.component:chromosome-identifier.value[x]requiredLOINC LL2938-0
Observation.component:chromosome-identifier.dataAbsentReasonextensibleDataAbsentReason
Observation.component:chromosome-identifier.interpretationextensibleObservationInterpretationCodes

Constraints

IdPathDetailsRequirements
dom-2ObservationIf the resource is contained in another resource, it SHALL NOT contain nested Resources
: contained.contained.empty()
dom-3ObservationIf 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-4ObservationIf 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-5ObservationIf a resource is contained in another resource, it SHALL NOT have a security label
: contained.meta.security.empty()
dom-6ObservationA resource should have narrative for robust management
: text.`div`.exists()
obs-6ObservationdataAbsentReason SHALL only be present if Observation.value[x] is not present
: dataAbsentReason.empty() or value.empty()
obs-7ObservationIf 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()
ele-1Observation.metaAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.implicitRulesAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.languageAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.textAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.extension:secondaryfindingAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.extension:secondaryfindingMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.extension:bodyStructureAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.extension:bodyStructureMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.identifierAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.basedOnAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.partOfAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.statusAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.categoryAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.category:labCategoryAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.category:labCategory.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.category:labCategory.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.category:labCategory.codingAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.category:labCategory.textAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.subjectAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.focusAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.encounterAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.effective[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.issuedAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.performerAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.value[x]:valueCodeableConceptAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.noteAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.bodySiteAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.methodAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.specimenAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.deviceAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
obs-3Observation.referenceRangeMust have at least a low or a high or text
: low.exists() or high.exists() or text.exists()
ele-1Observation.referenceRange.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.referenceRange.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.referenceRange.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.referenceRange.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.referenceRange.lowAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.referenceRange.highAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.referenceRange.typeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.referenceRange.appliesToAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.referenceRange.ageAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.referenceRange.textAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.hasMemberAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.derivedFromAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.componentAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:conclusion-stringAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:conclusion-string.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:conclusion-string.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:conclusion-string.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:conclusion-string.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:conclusion-string.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:conclusion-string.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:conclusion-string.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:conclusion-string.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:conclusion-string.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:gene-studiedAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:gene-studied.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:gene-studied.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:gene-studied.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:gene-studied.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:gene-studied.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:gene-studied.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:gene-studied.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:gene-studied.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:gene-studied.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:CytogenicLocationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:CytogenicLocation.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:CytogenicLocation.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:CytogenicLocation.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:CytogenicLocation.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:CytogenicLocation.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:CytogenicLocation.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:CytogenicLocation.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:CytogenicLocation.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:CytogenicLocation.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:RefSequenceAssemblyAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:RefSequenceAssembly.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:RefSequenceAssembly.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:RefSequenceAssembly.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:RefSequenceAssembly.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:RefSequenceAssembly.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:RefSequenceAssembly.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:RefSequenceAssembly.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:RefSequenceAssembly.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:RefSequenceAssembly.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:dna-chgAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:dna-chg.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:dna-chg.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:dna-chg.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:dna-chg.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:dna-chg.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:dna-chg.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:dna-chg.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:dna-chg.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:dna-chg.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:dna-chg-typeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:dna-chg-type.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:dna-chg-type.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:dna-chg-type.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:dna-chg-type.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:dna-chg-type.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:dna-chg-type.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:dna-chg-type.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:dna-chg-type.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:dna-chg-type.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:molecular-consequenceAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:molecular-consequence.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:molecular-consequence.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:molecular-consequence.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:molecular-consequence.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:molecular-consequence.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:molecular-consequence.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:molecular-consequence.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:molecular-consequence.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:molecular-consequence.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:variation-codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:variation-code.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:variation-code.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:variation-code.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:variation-code.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:variation-code.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:variation-code.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:variation-code.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:variation-code.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:variation-code.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:genomic-dna-chgAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:genomic-dna-chg.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:genomic-dna-chg.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:genomic-dna-chg.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:genomic-dna-chg.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:genomic-dna-chg.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:genomic-dna-chg.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:genomic-dna-chg.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:genomic-dna-chg.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:genomic-dna-chg.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:genomic-source-classAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:genomic-source-class.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:genomic-source-class.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:genomic-source-class.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:genomic-source-class.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:genomic-source-class.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:genomic-source-class.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:genomic-source-class.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:genomic-source-class.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:genomic-source-class.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:amino-acid-chgAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:amino-acid-chg.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:amino-acid-chg.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:amino-acid-chg.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:amino-acid-chg.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:amino-acid-chg.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:amino-acid-chg.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:amino-acid-chg.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:amino-acid-chg.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:amino-acid-chg.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:amino-acid-chg-typeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:amino-acid-chg-type.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:amino-acid-chg-type.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:amino-acid-chg-type.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:amino-acid-chg-type.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:amino-acid-chg-type.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:amino-acid-chg-type.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:amino-acid-chg-type.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:amino-acid-chg-type.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:amino-acid-chg-type.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:transcript-ref-seqAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:transcript-ref-seq.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:transcript-ref-seq.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:transcript-ref-seq.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:transcript-ref-seq.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:transcript-ref-seq.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:transcript-ref-seq.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:transcript-ref-seq.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:transcript-ref-seq.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:transcript-ref-seq.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:genomic-ref-seqAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:genomic-ref-seq.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:genomic-ref-seq.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:genomic-ref-seq.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:genomic-ref-seq.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:genomic-ref-seq.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:genomic-ref-seq.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:genomic-ref-seq.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:genomic-ref-seq.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:genomic-ref-seq.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:sample-allelic-frequencyAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:sample-allelic-frequency.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:sample-allelic-frequency.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:sample-allelic-frequency.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:sample-allelic-frequency.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:sample-allelic-frequency.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:sample-allelic-frequency.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:sample-allelic-frequency.value[x].extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:sample-allelic-frequency.value[x].extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:sample-allelic-frequency.value[x].valueAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:sample-allelic-frequency.value[x].comparatorAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:sample-allelic-frequency.value[x].unitAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:sample-allelic-frequency.value[x].systemAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:sample-allelic-frequency.value[x].codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:sample-allelic-frequency.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:sample-allelic-frequency.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:sample-allelic-frequency.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:allelic-read-depthAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:allelic-read-depth.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:allelic-read-depth.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:allelic-read-depth.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:allelic-read-depth.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:allelic-read-depth.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:allelic-read-depth.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:allelic-read-depth.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:allelic-read-depth.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:allelic-read-depth.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:allelic-stateAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:allelic-state.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:allelic-state.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:allelic-state.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:allelic-state.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:allelic-state.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:allelic-state.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:allelic-state.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:allelic-state.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:allelic-state.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:copy-numberAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:copy-number.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:copy-number.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:copy-number.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:copy-number.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:copy-number.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:copy-number.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
cnt-3Observation.component:copy-number.value[x]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.
: (code.exists() or value.empty()) and (system.empty() or system = %ucum) and (code.empty() or code = '1') and (value.empty() or value.hasValue().not() or value.toString().contains('.').not())
ele-1Observation.component:copy-number.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:copy-number.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:copy-number.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:ref-alleleAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:ref-allele.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:ref-allele.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:ref-allele.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:ref-allele.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:ref-allele.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:ref-allele.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:ref-allele.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:ref-allele.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:ref-allele.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:alt-alleleAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:alt-allele.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:alt-allele.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:alt-allele.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:alt-allele.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:alt-allele.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:alt-allele.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:alt-allele.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:alt-allele.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:alt-allele.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:coordinate-systemAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:coordinate-system.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:coordinate-system.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:coordinate-system.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:coordinate-system.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:coordinate-system.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:coordinate-system.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:coordinate-system.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:coordinate-system.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:coordinate-system.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:exact-start-endAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:exact-start-end.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:exact-start-end.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:exact-start-end.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:exact-start-end.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:exact-start-end.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:exact-start-end.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:exact-start-end.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:exact-start-end.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:exact-start-end.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:outer-start-endAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:outer-start-end.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:outer-start-end.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:outer-start-end.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:outer-start-end.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:outer-start-end.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:outer-start-end.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:outer-start-end.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:outer-start-end.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:outer-start-end.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:inner-start-endAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:inner-start-end.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:inner-start-end.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:inner-start-end.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:inner-start-end.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:inner-start-end.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:inner-start-end.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:inner-start-end.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:inner-start-end.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:inner-start-end.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:cytogenomic-nomenclatureAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:cytogenomic-nomenclature.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:cytogenomic-nomenclature.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:cytogenomic-nomenclature.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:cytogenomic-nomenclature.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:cytogenomic-nomenclature.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:cytogenomic-nomenclature.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:cytogenomic-nomenclature.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:cytogenomic-nomenclature.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:cytogenomic-nomenclature.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:variant-inheritanceAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:variant-inheritance.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:variant-inheritance.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:variant-inheritance.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:variant-inheritance.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:variant-inheritance.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:variant-inheritance.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:variant-inheritance.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:variant-inheritance.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:variant-inheritance.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:chromosome-identifierAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:chromosome-identifier.extensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:chromosome-identifier.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:chromosome-identifier.modifierExtensionAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1Observation.component:chromosome-identifier.modifierExtensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.component:chromosome-identifier.codeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:chromosome-identifier.value[x]All FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:chromosome-identifier.dataAbsentReasonAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:chromosome-identifier.interpretationAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ele-1Observation.component:chromosome-identifier.referenceRangeAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())

Notes:

Variant has a large number of properties. However, these properties fall into groups, where each group of properties has a purpose (and in some cases represents information that typically appears together). The groups of properties are described below:

Variant Location properties

These are properties that help to describe where a particular variation occurs. Considering the reference sequence genomic-ref-seq:48013-7 and coordinate system coordinate-system:92822-6, the component exact-start-end can denote the first and last genomic positions in the reference that correspond to changes. If the observation points to a MolecularSequence resource as a reference sequence, then that resource will carry this information under variant.start and variant.end.

Additionally, if the exact start and end positions are unknown, outer-start-end and inner-start-end can be used to deliver the boundaries of where the variant begins and ends.

Variant Change Components

The components dna-chg:48004-6 and dna-chg-type:48019-4 are used to deliver the Human Genome Variation Society (HGVS) nomenclature for the observed DNA marker and codify the type of change observed. If the described variant is structural, genomic-dna-chg:81290-9 is used instead of dna-chg:48004-6. If a simple variant is observed, the component variation-code:81252-9 is used to report the variant's unique identifier. Alternatively, dbSNP-id:81255-2 can be used to represent the change, and/or the components ref-allele:69547-8 and alt-allele:69551-0 can directly relay the variation from the observed sequence.

Lastly, genomic-source-class:48002-0 can describe the genomic class of the specimen being analyzed, whether it is from inherited genome, cancer genome, or fetal genome.

Allelic State Components

The components allelic-frequency:81258-6, allelic-read-depth:82121-5, and allelic-state:53034-5 indicate infomartion about a particular allele. Namely, they communicate the relative frequency of the allele in the population, the number of reads that identified it, and the observed level of occurence within a set of chromosomes, respectively.

Amino Acid Change Components

The components amino-acid-chg:48005-3 and amino-acid-chg-type:48006-1 are used when communicating a variant in an amino acid sequence. Human Genome Variation Society (HGVS) nomenclature is used.

Genomic Location Components

The components gene-studied:48018-6 and cytogenetic-location:48001-2 are used to describe the cytogenetic chromosome location and the HUGO Gene Nomenclature Committee (HGNC) identifier for a gene studied.