This page is part of the Genetic Reporting Implementation Guide (v0.1.0: STU 1 Ballot 1) based on FHIR v3.3.0. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

The official URL for this profile is:

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

Described Variant is a new term that HL7 has assigned to the notion of Simple, Discrete and Structural variants. We have done this because of the difficulty of drawing a clear line between these other labels for variants. The rules are often driven by the registries to which the variants are submitted and are not necessarily consistent. The difference may be driven by testing methodology rather than a difference in the underlying genetic characteristic.

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 Described Variant into multiple sub-profiles with more specific purpose.

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

This structure is derived from Computable Genetic Finding

Summary

Mandatory: 2 elements (57 nested mandatory elements)
Must-Support: 84 elements
Fixed Value: 2 elements

Structures

This structure refers to these other structures:

Slices

This structure defines the following Slices:

  • The element Observation.component is sliced based on the value of pattern:code

This structure is derived from Computable Genetic Finding

NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation 0..*Described Variant (Discrete or Structural)
... code S1..1CodeableConceptGenetic variant assessment
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"TBD-Described"}]}
... valueCodeableConcept S1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodPresent|Absent|No call|Indeterminate
Binding: LOINC Answer List LL1971-2 (required)
... method S0..1CodeableConceptSequencing | Oligo aCGH | SNP array | BAC aCGH |Curated|+
Binding: LOINC Answer List LL4048-6 (required)
... component BackboneElementSlice: Unordered, Open by pattern:code
... component S0..1BackboneElementTranscript DNA change (cHGVS)
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"48004-6"}]}
.... valueCodeableConcept S1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodBinding: (unbound) (example)
... component S0..1BackboneElementDNA change type
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"48019-4"}]}
.... valueCodeableConcept S1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodWild type | Deletion | Duplication | Insertion | Insertion/Deletion | Inversion | Substitution | Copy number gain +
Binding: LOINC Answer List LL4033-8 (required)
... component S0..1BackboneElementSimple var ID
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"81252-9"}]}
.... valueCodeableConcept S1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodBinding: (unbound) (example)
... component S0..1BackboneElementdbSNP ID
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"81255-2"}]}
.... valueCodeableConcept S1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodBinding: (unbound) (example)
... component S0..1BackboneElementGenomica DNA change (gHGVS)
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"81290-9"}]}
.... valueCodeableConcept S1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodBinding: (unbound) (example)
... component S0..1BackboneElementGenomic source class
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"48002-0"}]}
.... valueCodeableConcept S1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodGermline | Somatic | Fetal | Likely germline | Likely somatic |Likely fetal | Unknown genomic origin | De novo
Binding: LOINC Answer List LL378-1 (required)
... component S0..1BackboneElementAmino acid change (pHGVS)
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"48005-3"}]}
.... valueCodeableConcept S1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodBinding: (unbound) (example)
... component S0..1BackboneElementAmino acid change type
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"48006-1"}]}
.... valueCodeableConcept S1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodWild type | Deletion | Duplication | Frameshift | Initiating Methionine | Insertion | Insertion and Deletion | Missense | Silent | Stop Codon Mutation
Binding: LOINC Answer List LL380-7 (required)
... component S0..1BackboneElementTranscript reference sequence ID
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"51958-7"}]}
.... valueCodeableConcept S1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodBinding: (unbound) (example)
... component S0..1BackboneElementGenomic reference sequence ID
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"48013-7"}]}
.... valueCodeableConcept S1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodBinding: (unbound) (example)
... component S0..1BackboneElementAllelic Frequency
.... code S1..1CodeableConceptAllelic frequency [NFr]
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"81258-6"}]}
.... valueQuantity S1..1Quantity
..... value S1..1decimal
..... system S1..1uriFixed Value: http://unitsofmeasure.org
..... code S1..1codeFixed Value: %
... component S0..1BackboneElementAllelic phase
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"82120-7"}]}
.... valueCodeableConcept S1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period1st set of variants is cis relation to each other | 2nd set of variants is cis relation to each other | 3rd set of variants is cis relation to each other | 4th set of variants is cis relation to each other | 5th set of variants is cis relation to each other | Maternal | Paternal | Unknown | Other, please specify
Binding: LOINC Answer List LL4025-4 (required)
... component S0..1BackboneElementBasis for allelic phase
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"82309-6"}]}
.... valueCodeableConcept S1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodBinding: LOINC Answer List LL4050-2 (required)
... component S0..*BackboneElement
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"82121-5"}]}
.... valueQuantity S1..1Count
... component S0..1BackboneElementAllelic state
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"53034-5"}]}
.... valueCodeableConcept S1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodHeteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous
Binding: LOINC Answer List LL381-5 (required)
... component S0..1BackboneElementGenomic structural variant copy number
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"82155-3"}]}
.... valueQuantity S1..1Count
... component S0..1BackboneElementStructural variant reported arrCGH [Ratio]
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"81299-0"}]}
.... valueQuantity S1..1SimpleQuantity
... component S0..1BackboneElementGenomic ref allele
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"69547-8"}]}
.... valueString S1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period
... component S0..1BackboneElementGenomic alt allele
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"69551-0"}]}
.... valueString S1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period
... component S0..1BackboneElementCoordinate System
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"TBD"}]}
.... valueCodeableConcept S1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodBinding: GeneticCoordinateSystem (required)
... component S0..1BackboneElementGenomic Allele start-end
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"81254-5"}]}
.... valueRange S1..1Range
..... low S1..1SimpleQuantityGenomic Allele start
..... high S1..1SimpleQuantityGenomic Allele end
... component S0..1BackboneElementStructural variant length
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"81300-6"}]}
.... valueQuantity S1..1Count
... component S0..1BackboneElementStructural variant outer start and end
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"81301-4"}]}
.... valueRange S1..1Range
..... low S1..1SimpleQuantity
..... high S1..1SimpleQuantity
... component S0..1BackboneElementStructural variant inner start and end
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"81302-2"}]}
.... valueRange S1..1Range
..... low S1..1SimpleQuantity
..... high S1..1SimpleQuantity

doco Documentation for this format
NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation I0..*Described Variant (Discrete or Structural)
... id Σ0..1idLogical 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: Common Languages (extensible)
... text I0..1NarrativeText summary of the resource, for human interpretation
... contained 0..*ResourceContained, inline Resources
... body-structure SI0..1Reference(BodyStructure)Extension
URL: http://hl7.org/fhir/StructureDefinition/body-structure
... modifierExtension ?!0..*ExtensionExtensions that cannot be ignored
... identifier Σ0..*IdentifierBusiness Identifier for observation
... basedOn SΣ0..*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 ?!SΣ1..1coderegistered | preliminary | final | amended +
Binding: ObservationStatus (required)
... category S1..*CodeableConceptClassification of type of observation
Binding: Observation Category Codes (preferred)

Required Pattern: {"coding":[{"system":"http://hl7.org/fhir/observation-category","code":"laboratory"}]}
... code SΣ1..1CodeableConceptGenetic variant assessment
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"TBD-Described"}]}
... subject SΣ0..1Reference(Patient | Group | Location)Who and/or what this is about
... focus Σ0..1Reference(Resource)The "focal point" of the observation
... context 0..1Reference(Encounter | EpisodeOfCare)Healthcare event during which this observation is made
... effective[x] SΣ0..1dateTime, Period, TimingAssessment of overall results
... issued SΣ0..1instantAssessment of deletion/duplication results
... performer SΣ0..1Reference(Practitioner | Organization | Patient | RelatedPerson)Genes, drugs and/or conditions tested with no findings
... value[x] SΣI1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodPresent|Absent|No call|Indeterminate
Binding: LOINC Answer List LL1971-2 (required)
... dataAbsentReason I0..1CodeableConceptWhy the result is missing
Binding: DataAbsentReason (extensible)
... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
... comment 0..1stringComments about result
... bodySite 0..1CodeableConceptObserved body part
Binding: SNOMED CT Body Structures (example)
... method S0..1CodeableConceptSequencing | Oligo aCGH | SNP array | BAC aCGH |Curated|+
Binding: LOINC Answer List LL4048-6 (required)
... specimen S1..1Reference(Specimen)Specimen examined
... device 0..1Reference(Device | DeviceComponent | DeviceMetric)(Measurement) Device
... referenceRange I0..*BackboneElementProvides guide for interpretation
obs-3: Must have at least a low or a high or text
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... low I0..1SimpleQuantityLow Range, if relevant
.... high I0..1SimpleQuantityHigh Range, if relevant
.... type 0..1CodeableConceptReference range qualifier
Binding: Observation Reference Range Meaning Codes (extensible)
.... appliesTo 0..*CodeableConceptReference range population
Binding: Observation Reference Range Applies To Codes (example)
.... age 0..1RangeApplicable age range, if relevant
.... text 0..1stringText based reference range in an observation
... hasMember Σ0..*Reference(Observation | QuestionnaireResponse | Sequence)Related resource that belongs to the Observation group
... derivedFrom SΣReference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | Sequence)Related measurements the observation is made from
Slice: Unordered, Open by type:$this, pattern:resolve().code
... derivedFrom SΣ0..*Reference(Definitional Sequence)Sequence
... component ΣIBackboneElementComponent results
Slice: Unordered, Open by pattern:code
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
.... value[x] Σ0..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodActual component result
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..*BackboneElementGene studied ID
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"48018-6"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodActual component result
Binding: (unbound) (example)
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..*BackboneElementCytogenetic (chromosome) location
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"48001-2"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodActual component result
Binding: (unbound) (example)
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..*BackboneElementDescription of ranges of DNA sequences examined
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"81293-3"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodActual component result
Binding: (unbound) (example)
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementTranscript DNA change (cHGVS)
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"48004-6"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodActual component result
Binding: (unbound) (example)
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementDNA change type
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"48019-4"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodWild type | Deletion | Duplication | Insertion | Insertion/Deletion | Inversion | Substitution | Copy number gain +
Binding: LOINC Answer List LL4033-8 (required)
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementSimple var ID
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"81252-9"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodActual component result
Binding: (unbound) (example)
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementdbSNP ID
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"81255-2"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodActual component result
Binding: (unbound) (example)
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementGenomica DNA change (gHGVS)
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"81290-9"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodActual component result
Binding: (unbound) (example)
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementGenomic source class
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"48002-0"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodGermline | Somatic | Fetal | Likely germline | Likely somatic |Likely fetal | Unknown genomic origin | De novo
Binding: LOINC Answer List LL378-1 (required)
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementAmino acid change (pHGVS)
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"48005-3"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodActual component result
Binding: (unbound) (example)
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementAmino acid change type
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"48006-1"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodWild type | Deletion | Duplication | Frameshift | Initiating Methionine | Insertion | Insertion and Deletion | Missense | Silent | Stop Codon Mutation
Binding: LOINC Answer List LL380-7 (required)
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementTranscript reference sequence ID
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"51958-7"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodActual component result
Binding: (unbound) (example)
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementGenomic reference sequence ID
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"48013-7"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodActual component result
Binding: (unbound) (example)
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementAllelic Frequency
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptAllelic frequency [NFr]
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"81258-6"}]}
.... value[x] SΣ1..1QuantityActual component result
..... id 0..1stringxml:id (or equivalent in JSON)
..... value SΣ1..1decimalNumerical value (with implicit precision)
..... comparator ?!Σ0..1code< | <= | >= | > - how to understand the value
Binding: QuantityComparator (required)
..... unit Σ0..1stringUnit representation
..... system SΣI1..1uriSystem that defines coded unit form
Fixed Value: http://unitsofmeasure.org
..... code SΣ1..1codeCoded form of the unit
Fixed Value: %
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementAllelic phase
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"82120-7"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period1st set of variants is cis relation to each other | 2nd set of variants is cis relation to each other | 3rd set of variants is cis relation to each other | 4th set of variants is cis relation to each other | 5th set of variants is cis relation to each other | Maternal | Paternal | Unknown | Other, please specify
Binding: LOINC Answer List LL4025-4 (required)
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementBasis for allelic phase
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"82309-6"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodActual component result
Binding: LOINC Answer List LL4050-2 (required)
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..*BackboneElementComponent results
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"82121-5"}]}
.... valueQuantity SI1..1CountActual component result
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementAllelic state
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"53034-5"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodHeteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous
Binding: LOINC Answer List LL381-5 (required)
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementGenomic structural variant copy number
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"82155-3"}]}
.... valueQuantity SI1..1CountActual component result
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementStructural variant reported arrCGH [Ratio]
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"81299-0"}]}
.... valueQuantity SI1..1SimpleQuantityActual component result
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementGenomic ref allele
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"69547-8"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodActual component result
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementGenomic alt allele
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"69551-0"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodActual component result
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementCoordinate System
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"TBD"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodActual component result
Binding: GeneticCoordinateSystem (required)
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementGenomic Allele start-end
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"81254-5"}]}
.... value[x] SΣ1..1RangeActual component result
..... id 0..1stringxml:id (or equivalent in JSON)
..... low SΣ1..1SimpleQuantityGenomic Allele start
..... high SΣ1..1SimpleQuantityGenomic Allele end
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementStructural variant length
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"81300-6"}]}
.... valueQuantity SI1..1CountActual component result
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementStructural variant outer start and end
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"81301-4"}]}
.... value[x] SΣ1..1RangeActual component result
..... id 0..1stringxml:id (or equivalent in JSON)
..... low SΣ1..1SimpleQuantityLow limit
..... high SΣ1..1SimpleQuantityHigh limit
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementStructural variant inner start and end
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"81302-2"}]}
.... value[x] SΣ1..1RangeActual component result
..... id 0..1stringxml:id (or equivalent in JSON)
..... low SΣ1..1SimpleQuantityLow limit
..... high SΣ1..1SimpleQuantityHigh limit
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result

doco Documentation for this format

This structure is derived from Computable Genetic Finding

Summary

Mandatory: 2 elements (57 nested mandatory elements)
Must-Support: 84 elements
Fixed Value: 2 elements

Structures

This structure refers to these other structures:

Slices

This structure defines the following Slices:

  • The element Observation.component is sliced based on the value of pattern:code

Differential View

This structure is derived from Computable Genetic Finding

NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation 0..*Described Variant (Discrete or Structural)
... code S1..1CodeableConceptGenetic variant assessment
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"TBD-Described"}]}
... valueCodeableConcept S1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodPresent|Absent|No call|Indeterminate
Binding: LOINC Answer List LL1971-2 (required)
... method S0..1CodeableConceptSequencing | Oligo aCGH | SNP array | BAC aCGH |Curated|+
Binding: LOINC Answer List LL4048-6 (required)
... component BackboneElementSlice: Unordered, Open by pattern:code
... component S0..1BackboneElementTranscript DNA change (cHGVS)
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"48004-6"}]}
.... valueCodeableConcept S1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodBinding: (unbound) (example)
... component S0..1BackboneElementDNA change type
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"48019-4"}]}
.... valueCodeableConcept S1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodWild type | Deletion | Duplication | Insertion | Insertion/Deletion | Inversion | Substitution | Copy number gain +
Binding: LOINC Answer List LL4033-8 (required)
... component S0..1BackboneElementSimple var ID
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"81252-9"}]}
.... valueCodeableConcept S1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodBinding: (unbound) (example)
... component S0..1BackboneElementdbSNP ID
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"81255-2"}]}
.... valueCodeableConcept S1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodBinding: (unbound) (example)
... component S0..1BackboneElementGenomica DNA change (gHGVS)
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"81290-9"}]}
.... valueCodeableConcept S1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodBinding: (unbound) (example)
... component S0..1BackboneElementGenomic source class
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"48002-0"}]}
.... valueCodeableConcept S1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodGermline | Somatic | Fetal | Likely germline | Likely somatic |Likely fetal | Unknown genomic origin | De novo
Binding: LOINC Answer List LL378-1 (required)
... component S0..1BackboneElementAmino acid change (pHGVS)
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"48005-3"}]}
.... valueCodeableConcept S1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodBinding: (unbound) (example)
... component S0..1BackboneElementAmino acid change type
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"48006-1"}]}
.... valueCodeableConcept S1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodWild type | Deletion | Duplication | Frameshift | Initiating Methionine | Insertion | Insertion and Deletion | Missense | Silent | Stop Codon Mutation
Binding: LOINC Answer List LL380-7 (required)
... component S0..1BackboneElementTranscript reference sequence ID
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"51958-7"}]}
.... valueCodeableConcept S1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodBinding: (unbound) (example)
... component S0..1BackboneElementGenomic reference sequence ID
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"48013-7"}]}
.... valueCodeableConcept S1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodBinding: (unbound) (example)
... component S0..1BackboneElementAllelic Frequency
.... code S1..1CodeableConceptAllelic frequency [NFr]
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"81258-6"}]}
.... valueQuantity S1..1Quantity
..... value S1..1decimal
..... system S1..1uriFixed Value: http://unitsofmeasure.org
..... code S1..1codeFixed Value: %
... component S0..1BackboneElementAllelic phase
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"82120-7"}]}
.... valueCodeableConcept S1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period1st set of variants is cis relation to each other | 2nd set of variants is cis relation to each other | 3rd set of variants is cis relation to each other | 4th set of variants is cis relation to each other | 5th set of variants is cis relation to each other | Maternal | Paternal | Unknown | Other, please specify
Binding: LOINC Answer List LL4025-4 (required)
... component S0..1BackboneElementBasis for allelic phase
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"82309-6"}]}
.... valueCodeableConcept S1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodBinding: LOINC Answer List LL4050-2 (required)
... component S0..*BackboneElement
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"82121-5"}]}
.... valueQuantity S1..1Count
... component S0..1BackboneElementAllelic state
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"53034-5"}]}
.... valueCodeableConcept S1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodHeteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous
Binding: LOINC Answer List LL381-5 (required)
... component S0..1BackboneElementGenomic structural variant copy number
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"82155-3"}]}
.... valueQuantity S1..1Count
... component S0..1BackboneElementStructural variant reported arrCGH [Ratio]
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"81299-0"}]}
.... valueQuantity S1..1SimpleQuantity
... component S0..1BackboneElementGenomic ref allele
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"69547-8"}]}
.... valueString S1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period
... component S0..1BackboneElementGenomic alt allele
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"69551-0"}]}
.... valueString S1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period
... component S0..1BackboneElementCoordinate System
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"TBD"}]}
.... valueCodeableConcept S1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodBinding: GeneticCoordinateSystem (required)
... component S0..1BackboneElementGenomic Allele start-end
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"81254-5"}]}
.... valueRange S1..1Range
..... low S1..1SimpleQuantityGenomic Allele start
..... high S1..1SimpleQuantityGenomic Allele end
... component S0..1BackboneElementStructural variant length
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"81300-6"}]}
.... valueQuantity S1..1Count
... component S0..1BackboneElementStructural variant outer start and end
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"81301-4"}]}
.... valueRange S1..1Range
..... low S1..1SimpleQuantity
..... high S1..1SimpleQuantity
... component S0..1BackboneElementStructural variant inner start and end
.... code S1..1CodeableConceptRequired Pattern: {"coding":[{"system":"http://loinc.org","code":"81302-2"}]}
.... valueRange S1..1Range
..... low S1..1SimpleQuantity
..... high S1..1SimpleQuantity

doco Documentation for this format

Snapshot View

NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation I0..*Described Variant (Discrete or Structural)
... id Σ0..1idLogical 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: Common Languages (extensible)
... text I0..1NarrativeText summary of the resource, for human interpretation
... contained 0..*ResourceContained, inline Resources
... body-structure SI0..1Reference(BodyStructure)Extension
URL: http://hl7.org/fhir/StructureDefinition/body-structure
... modifierExtension ?!0..*ExtensionExtensions that cannot be ignored
... identifier Σ0..*IdentifierBusiness Identifier for observation
... basedOn SΣ0..*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 ?!SΣ1..1coderegistered | preliminary | final | amended +
Binding: ObservationStatus (required)
... category S1..*CodeableConceptClassification of type of observation
Binding: Observation Category Codes (preferred)

Required Pattern: {"coding":[{"system":"http://hl7.org/fhir/observation-category","code":"laboratory"}]}
... code SΣ1..1CodeableConceptGenetic variant assessment
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"TBD-Described"}]}
... subject SΣ0..1Reference(Patient | Group | Location)Who and/or what this is about
... focus Σ0..1Reference(Resource)The "focal point" of the observation
... context 0..1Reference(Encounter | EpisodeOfCare)Healthcare event during which this observation is made
... effective[x] SΣ0..1dateTime, Period, TimingAssessment of overall results
... issued SΣ0..1instantAssessment of deletion/duplication results
... performer SΣ0..1Reference(Practitioner | Organization | Patient | RelatedPerson)Genes, drugs and/or conditions tested with no findings
... value[x] SΣI1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodPresent|Absent|No call|Indeterminate
Binding: LOINC Answer List LL1971-2 (required)
... dataAbsentReason I0..1CodeableConceptWhy the result is missing
Binding: DataAbsentReason (extensible)
... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
... comment 0..1stringComments about result
... bodySite 0..1CodeableConceptObserved body part
Binding: SNOMED CT Body Structures (example)
... method S0..1CodeableConceptSequencing | Oligo aCGH | SNP array | BAC aCGH |Curated|+
Binding: LOINC Answer List LL4048-6 (required)
... specimen S1..1Reference(Specimen)Specimen examined
... device 0..1Reference(Device | DeviceComponent | DeviceMetric)(Measurement) Device
... referenceRange I0..*BackboneElementProvides guide for interpretation
obs-3: Must have at least a low or a high or text
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... low I0..1SimpleQuantityLow Range, if relevant
.... high I0..1SimpleQuantityHigh Range, if relevant
.... type 0..1CodeableConceptReference range qualifier
Binding: Observation Reference Range Meaning Codes (extensible)
.... appliesTo 0..*CodeableConceptReference range population
Binding: Observation Reference Range Applies To Codes (example)
.... age 0..1RangeApplicable age range, if relevant
.... text 0..1stringText based reference range in an observation
... hasMember Σ0..*Reference(Observation | QuestionnaireResponse | Sequence)Related resource that belongs to the Observation group
... derivedFrom SΣReference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | Sequence)Related measurements the observation is made from
Slice: Unordered, Open by type:$this, pattern:resolve().code
... derivedFrom SΣ0..*Reference(Definitional Sequence)Sequence
... component ΣIBackboneElementComponent results
Slice: Unordered, Open by pattern:code
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code Σ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
.... value[x] Σ0..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodActual component result
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..*BackboneElementGene studied ID
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"48018-6"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodActual component result
Binding: (unbound) (example)
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..*BackboneElementCytogenetic (chromosome) location
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"48001-2"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodActual component result
Binding: (unbound) (example)
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..*BackboneElementDescription of ranges of DNA sequences examined
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"81293-3"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodActual component result
Binding: (unbound) (example)
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementTranscript DNA change (cHGVS)
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"48004-6"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodActual component result
Binding: (unbound) (example)
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementDNA change type
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"48019-4"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodWild type | Deletion | Duplication | Insertion | Insertion/Deletion | Inversion | Substitution | Copy number gain +
Binding: LOINC Answer List LL4033-8 (required)
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementSimple var ID
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"81252-9"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodActual component result
Binding: (unbound) (example)
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementdbSNP ID
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"81255-2"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodActual component result
Binding: (unbound) (example)
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementGenomica DNA change (gHGVS)
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"81290-9"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodActual component result
Binding: (unbound) (example)
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementGenomic source class
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"48002-0"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodGermline | Somatic | Fetal | Likely germline | Likely somatic |Likely fetal | Unknown genomic origin | De novo
Binding: LOINC Answer List LL378-1 (required)
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementAmino acid change (pHGVS)
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"48005-3"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodActual component result
Binding: (unbound) (example)
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementAmino acid change type
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"48006-1"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodWild type | Deletion | Duplication | Frameshift | Initiating Methionine | Insertion | Insertion and Deletion | Missense | Silent | Stop Codon Mutation
Binding: LOINC Answer List LL380-7 (required)
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementTranscript reference sequence ID
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"51958-7"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodActual component result
Binding: (unbound) (example)
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementGenomic reference sequence ID
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"48013-7"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodActual component result
Binding: (unbound) (example)
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementAllelic Frequency
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptAllelic frequency [NFr]
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"81258-6"}]}
.... value[x] SΣ1..1QuantityActual component result
..... id 0..1stringxml:id (or equivalent in JSON)
..... value SΣ1..1decimalNumerical value (with implicit precision)
..... comparator ?!Σ0..1code< | <= | >= | > - how to understand the value
Binding: QuantityComparator (required)
..... unit Σ0..1stringUnit representation
..... system SΣI1..1uriSystem that defines coded unit form
Fixed Value: http://unitsofmeasure.org
..... code SΣ1..1codeCoded form of the unit
Fixed Value: %
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementAllelic phase
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"82120-7"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period1st set of variants is cis relation to each other | 2nd set of variants is cis relation to each other | 3rd set of variants is cis relation to each other | 4th set of variants is cis relation to each other | 5th set of variants is cis relation to each other | Maternal | Paternal | Unknown | Other, please specify
Binding: LOINC Answer List LL4025-4 (required)
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementBasis for allelic phase
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"82309-6"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodActual component result
Binding: LOINC Answer List LL4050-2 (required)
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..*BackboneElementComponent results
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"82121-5"}]}
.... valueQuantity SI1..1CountActual component result
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementAllelic state
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"53034-5"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodHeteroplasmic | Homoplasmic | Homozygous | Heterozygous | Hemizygous
Binding: LOINC Answer List LL381-5 (required)
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementGenomic structural variant copy number
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"82155-3"}]}
.... valueQuantity SI1..1CountActual component result
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementStructural variant reported arrCGH [Ratio]
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"81299-0"}]}
.... valueQuantity SI1..1SimpleQuantityActual component result
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementGenomic ref allele
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"69547-8"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodActual component result
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementGenomic alt allele
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"69551-0"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodActual component result
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementCoordinate System
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"TBD"}]}
.... value[x] SΣ1..1Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, PeriodActual component result
Binding: GeneticCoordinateSystem (required)
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementGenomic Allele start-end
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"81254-5"}]}
.... value[x] SΣ1..1RangeActual component result
..... id 0..1stringxml:id (or equivalent in JSON)
..... low SΣ1..1SimpleQuantityGenomic Allele start
..... high SΣ1..1SimpleQuantityGenomic Allele end
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementStructural variant length
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"81300-6"}]}
.... valueQuantity SI1..1CountActual component result
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementStructural variant outer start and end
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"81301-4"}]}
.... value[x] SΣ1..1RangeActual component result
..... id 0..1stringxml:id (or equivalent in JSON)
..... low SΣ1..1SimpleQuantityLow limit
..... high SΣ1..1SimpleQuantityHigh limit
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result
... component SΣI0..1BackboneElementStructural variant inner start and end
.... id 0..1stringxml:id (or equivalent in JSON)
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored
.... code SΣ1..1CodeableConceptType of component observation (code / type)
Binding: LOINC Codes (example)
Required Pattern: {"coding":[{"system":"http://loinc.org","code":"81302-2"}]}
.... value[x] SΣ1..1RangeActual component result
..... id 0..1stringxml:id (or equivalent in JSON)
..... low SΣ1..1SimpleQuantityLow limit
..... high SΣ1..1SimpleQuantityHigh limit
.... dataAbsentReason I0..1CodeableConceptWhy the component result is missing
Binding: DataAbsentReason (extensible)
.... interpretation 0..1CodeableConceptHigh, low, normal, etc.
Binding: Observation Interpretation Codes (extensible)
.... referenceRange 0..*Unknown reference to #Observation.referenceRange
Provides guide for interpretation of component result

doco Documentation for this format

 

Other representations of profile: Schematron

Terminology Bindings

PathNameConformanceValueSet
Observation.languageCommon LanguagesextensibleCommon Languages
Observation.statusObservationStatusrequiredObservationStatus
Observation.categoryObservation Category CodespreferredObservation Category Codes
Observation.codeLOINC CodesexampleLOINC Codes
Observation.value[x]LOINC LL1971-2requiredLOINC LL1971-2
Observation.dataAbsentReasonDataAbsentReasonextensibleDataAbsentReason
Observation.interpretationObservation Interpretation CodesextensibleObservation Interpretation Codes
Observation.bodySiteSNOMED CT Body StructuresexampleSNOMED CT Body Structures
Observation.methodLOINC LL4048-6requiredLOINC LL4048-6
Observation.referenceRange.typeObservation Reference Range Meaning CodesextensibleObservation Reference Range Meaning Codes
Observation.referenceRange.appliesToObservation Reference Range Applies To CodesexampleObservation Reference Range Applies To Codes
Observation.component.codeLOINC CodesexampleLOINC Codes
Observation.component.dataAbsentReasonDataAbsentReasonextensibleDataAbsentReason
Observation.component.interpretationObservation Interpretation CodesextensibleObservation Interpretation Codes
Observation.component.codeLOINC CodesexampleLOINC Codes
Observation.component.value[x]GeneticCoordinateSystemrequiredGeneticCoordinateSystem
Observation.component.dataAbsentReasonDataAbsentReasonextensibleDataAbsentReason
Observation.component.interpretationObservation Interpretation CodesextensibleObservation Interpretation Codes
Observation.component.codeLOINC CodesexampleLOINC Codes
Observation.component.value[x]GeneticCoordinateSystemrequiredGeneticCoordinateSystem
Observation.component.dataAbsentReasonDataAbsentReasonextensibleDataAbsentReason
Observation.component.interpretationObservation Interpretation CodesextensibleObservation Interpretation Codes
Observation.component.codeLOINC CodesexampleLOINC Codes
Observation.component.value[x]GeneticCoordinateSystemrequiredGeneticCoordinateSystem
Observation.component.dataAbsentReasonDataAbsentReasonextensibleDataAbsentReason
Observation.component.interpretationObservation Interpretation CodesextensibleObservation Interpretation Codes
Observation.component.codeLOINC CodesexampleLOINC Codes
Observation.component.value[x]GeneticCoordinateSystemrequiredGeneticCoordinateSystem
Observation.component.dataAbsentReasonDataAbsentReasonextensibleDataAbsentReason
Observation.component.interpretationObservation Interpretation CodesextensibleObservation Interpretation Codes
Observation.component.codeLOINC CodesexampleLOINC Codes
Observation.component.value[x]GeneticCoordinateSystemrequiredGeneticCoordinateSystem
Observation.component.dataAbsentReasonDataAbsentReasonextensibleDataAbsentReason
Observation.component.interpretationObservation Interpretation CodesextensibleObservation Interpretation Codes
Observation.component.codeLOINC CodesexampleLOINC Codes
Observation.component.value[x]GeneticCoordinateSystemrequiredGeneticCoordinateSystem
Observation.component.dataAbsentReasonDataAbsentReasonextensibleDataAbsentReason
Observation.component.interpretationObservation Interpretation CodesextensibleObservation Interpretation Codes
Observation.component.codeLOINC CodesexampleLOINC Codes
Observation.component.value[x]GeneticCoordinateSystemrequiredGeneticCoordinateSystem
Observation.component.dataAbsentReasonDataAbsentReasonextensibleDataAbsentReason
Observation.component.interpretationObservation Interpretation CodesextensibleObservation Interpretation Codes
Observation.component.codeLOINC CodesexampleLOINC Codes
Observation.component.value[x]GeneticCoordinateSystemrequiredGeneticCoordinateSystem
Observation.component.dataAbsentReasonDataAbsentReasonextensibleDataAbsentReason
Observation.component.interpretationObservation Interpretation CodesextensibleObservation Interpretation Codes
Observation.component.codeLOINC CodesexampleLOINC Codes
Observation.component.value[x]GeneticCoordinateSystemrequiredGeneticCoordinateSystem
Observation.component.dataAbsentReasonDataAbsentReasonextensibleDataAbsentReason
Observation.component.interpretationObservation Interpretation CodesextensibleObservation Interpretation Codes
Observation.component.codeLOINC CodesexampleLOINC Codes
Observation.component.value[x]GeneticCoordinateSystemrequiredGeneticCoordinateSystem
Observation.component.dataAbsentReasonDataAbsentReasonextensibleDataAbsentReason
Observation.component.interpretationObservation Interpretation CodesextensibleObservation Interpretation Codes
Observation.component.codeLOINC CodesexampleLOINC Codes
Observation.component.value[x]GeneticCoordinateSystemrequiredGeneticCoordinateSystem
Observation.component.dataAbsentReasonDataAbsentReasonextensibleDataAbsentReason
Observation.component.interpretationObservation Interpretation CodesextensibleObservation Interpretation Codes
Observation.component.codeLOINC CodesexampleLOINC Codes
Observation.component.value[x]GeneticCoordinateSystemrequiredGeneticCoordinateSystem
Observation.component.dataAbsentReasonDataAbsentReasonextensibleDataAbsentReason
Observation.component.interpretationObservation Interpretation CodesextensibleObservation Interpretation Codes
Observation.component.codeLOINC CodesexampleLOINC Codes
Observation.component.value[x]GeneticCoordinateSystemrequiredGeneticCoordinateSystem
Observation.component.dataAbsentReasonDataAbsentReasonextensibleDataAbsentReason
Observation.component.interpretationObservation Interpretation CodesextensibleObservation Interpretation Codes
Observation.component.codeLOINC CodesexampleLOINC Codes
Observation.component.value[x].comparatorQuantityComparatorrequiredQuantityComparator
Observation.component.dataAbsentReasonDataAbsentReasonextensibleDataAbsentReason
Observation.component.interpretationObservation Interpretation CodesextensibleObservation Interpretation Codes
Observation.component.codeLOINC CodesexampleLOINC Codes
Observation.component.value[x]GeneticCoordinateSystemrequiredGeneticCoordinateSystem
Observation.component.dataAbsentReasonDataAbsentReasonextensibleDataAbsentReason
Observation.component.interpretationObservation Interpretation CodesextensibleObservation Interpretation Codes
Observation.component.codeLOINC CodesexampleLOINC Codes
Observation.component.value[x]GeneticCoordinateSystemrequiredGeneticCoordinateSystem
Observation.component.dataAbsentReasonDataAbsentReasonextensibleDataAbsentReason
Observation.component.interpretationObservation Interpretation CodesextensibleObservation Interpretation Codes
Observation.component.codeLOINC CodesexampleLOINC Codes
Observation.component.dataAbsentReasonDataAbsentReasonextensibleDataAbsentReason
Observation.component.interpretationObservation Interpretation CodesextensibleObservation Interpretation Codes
Observation.component.codeLOINC CodesexampleLOINC Codes
Observation.component.value[x]GeneticCoordinateSystemrequiredGeneticCoordinateSystem
Observation.component.dataAbsentReasonDataAbsentReasonextensibleDataAbsentReason
Observation.component.interpretationObservation Interpretation CodesextensibleObservation Interpretation Codes
Observation.component.codeLOINC CodesexampleLOINC Codes
Observation.component.dataAbsentReasonDataAbsentReasonextensibleDataAbsentReason
Observation.component.interpretationObservation Interpretation CodesextensibleObservation Interpretation Codes
Observation.component.codeLOINC CodesexampleLOINC Codes
Observation.component.dataAbsentReasonDataAbsentReasonextensibleDataAbsentReason
Observation.component.interpretationObservation Interpretation CodesextensibleObservation Interpretation Codes
Observation.component.codeLOINC CodesexampleLOINC Codes
Observation.component.dataAbsentReasonDataAbsentReasonextensibleDataAbsentReason
Observation.component.interpretationObservation Interpretation CodesextensibleObservation Interpretation Codes
Observation.component.codeLOINC CodesexampleLOINC Codes
Observation.component.dataAbsentReasonDataAbsentReasonextensibleDataAbsentReason
Observation.component.interpretationObservation Interpretation CodesextensibleObservation Interpretation Codes
Observation.component.codeLOINC CodesexampleLOINC Codes
Observation.component.value[x]GeneticCoordinateSystemrequiredGeneticCoordinateSystem
Observation.component.dataAbsentReasonDataAbsentReasonextensibleDataAbsentReason
Observation.component.interpretationObservation Interpretation CodesextensibleObservation Interpretation Codes
Observation.component.codeLOINC CodesexampleLOINC Codes
Observation.component.dataAbsentReasonDataAbsentReasonextensibleDataAbsentReason
Observation.component.interpretationObservation Interpretation CodesextensibleObservation Interpretation Codes
Observation.component.codeLOINC CodesexampleLOINC Codes
Observation.component.dataAbsentReasonDataAbsentReasonextensibleDataAbsentReason
Observation.component.interpretationObservation Interpretation CodesextensibleObservation Interpretation Codes
Observation.component.codeLOINC CodesexampleLOINC Codes
Observation.component.dataAbsentReasonDataAbsentReasonextensibleDataAbsentReason
Observation.component.interpretationObservation Interpretation CodesextensibleObservation Interpretation Codes
Observation.component.codeLOINC CodesexampleLOINC Codes
Observation.component.dataAbsentReasonDataAbsentReasonextensibleDataAbsentReason
Observation.component.interpretationObservation Interpretation CodesextensibleObservation Interpretation Codes

Constraints

IdPathDetailsRequirements
dom-2ObservationIf the resource is contained in another resource, it SHALL NOT contain nested Resources
: contained.contained.empty()
dom-1ObservationIf the resource is contained in another resource, it SHALL NOT contain any narrative
: contained.text.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-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.all(('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists())
obs-7ObservationIf Observation.code is the same as a Observation.component.code then the value element associated with the code SHALL NOT be present
: value.empty() or component.code.where( (coding.code = %resource.code.coding.code) and (coding.system = %resource.code.coding.system)).empty()
obs-6ObservationdataAbsentReason SHALL only be present if Observation.value[x] is not present
: dataAbsentReason.empty() or value.empty()
ele-1Observation.extensionAll FHIR elements must have a @value or children
: hasValue() | (children().count() > id.count())
ext-1Observation.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.extensionAll FHIR elements must have a @value or children
: hasValue() | (children().count() > id.count())
ext-1Observation.extensionMust have either extensions or value[x], not both
: extension.exists() != value.exists()
ele-1Observation.referenceRangeAll FHIR elements must have a @value or children
: hasValue() | (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.componentAll FHIR elements must have a @value or children
: hasValue() | (children().count() > id.count())
ele-1Observation.componentAll FHIR elements must have a @value or children
: hasValue() | (children().count() > id.count())
ele-1Observation.componentAll FHIR elements must have a @value or children
: hasValue() | (children().count() > id.count())
ele-1Observation.componentAll FHIR elements must have a @value or children
: hasValue() | (children().count() > id.count())
ele-1Observation.componentAll FHIR elements must have a @value or children
: hasValue() | (children().count() > id.count())
ele-1Observation.componentAll FHIR elements must have a @value or children
: hasValue() | (children().count() > id.count())
ele-1Observation.componentAll FHIR elements must have a @value or children
: hasValue() | (children().count() > id.count())
ele-1Observation.componentAll FHIR elements must have a @value or children
: hasValue() | (children().count() > id.count())
ele-1Observation.componentAll FHIR elements must have a @value or children
: hasValue() | (children().count() > id.count())
ele-1Observation.componentAll FHIR elements must have a @value or children
: hasValue() | (children().count() > id.count())
ele-1Observation.componentAll FHIR elements must have a @value or children
: hasValue() | (children().count() > id.count())
ele-1Observation.componentAll FHIR elements must have a @value or children
: hasValue() | (children().count() > id.count())
ele-1Observation.componentAll FHIR elements must have a @value or children
: hasValue() | (children().count() > id.count())
ele-1Observation.componentAll FHIR elements must have a @value or children
: hasValue() | (children().count() > id.count())
ele-1Observation.componentAll FHIR elements must have a @value or children
: hasValue() | (children().count() > id.count())
ele-1Observation.componentAll FHIR elements must have a @value or children
: hasValue() | (children().count() > id.count())
ele-1Observation.componentAll FHIR elements must have a @value or children
: hasValue() | (children().count() > id.count())
ele-1Observation.componentAll FHIR elements must have a @value or children
: hasValue() | (children().count() > id.count())
qty-3Observation.component.valueQuantityIf a code for the unit is present, the system SHALL also be present
: code.empty() or system.exists()
cnt-3Observation.component.valueQuantityThere SHALL be a code with a value of "1" if there is a value and it SHALL be an expression of length. If system is present, it SHALL be UCUM. If present, the value SHALL 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.componentAll FHIR elements must have a @value or children
: hasValue() | (children().count() > id.count())
ele-1Observation.componentAll FHIR elements must have a @value or children
: hasValue() | (children().count() > id.count())
qty-3Observation.component.valueQuantityIf a code for the unit is present, the system SHALL also be present
: code.empty() or system.exists()
cnt-3Observation.component.valueQuantityThere SHALL be a code with a value of "1" if there is a value and it SHALL be an expression of length. If system is present, it SHALL be UCUM. If present, the value SHALL 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.componentAll FHIR elements must have a @value or children
: hasValue() | (children().count() > id.count())
qty-3Observation.component.valueQuantityIf a code for the unit is present, the system SHALL also be present
: code.empty() or system.exists()
cnt-3Observation.component.valueQuantityThere SHALL be a code with a value of "1" if there is a value and it SHALL be an expression of length. If system is present, it SHALL be UCUM. If present, the value SHALL 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.componentAll FHIR elements must have a @value or children
: hasValue() | (children().count() > id.count())
ele-1Observation.componentAll FHIR elements must have a @value or children
: hasValue() | (children().count() > id.count())
ele-1Observation.componentAll FHIR elements must have a @value or children
: hasValue() | (children().count() > id.count())
ele-1Observation.componentAll FHIR elements must have a @value or children
: hasValue() | (children().count() > id.count())
ele-1Observation.componentAll FHIR elements must have a @value or children
: hasValue() | (children().count() > id.count())
qty-3Observation.component.valueQuantityIf a code for the unit is present, the system SHALL also be present
: code.empty() or system.exists()
cnt-3Observation.component.valueQuantityThere SHALL be a code with a value of "1" if there is a value and it SHALL be an expression of length. If system is present, it SHALL be UCUM. If present, the value SHALL 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.componentAll FHIR elements must have a @value or children
: hasValue() | (children().count() > id.count())
ele-1Observation.componentAll FHIR elements must have a @value or children
: hasValue() | (children().count() > id.count())

The Described 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:

These are properties that help to describe where a particular variation occurs. Some are common for all computable findings (genotypes, haplotypes, described and complex variants). Some appear on the Sequence profile as they are potentially part of the 'definition' of the sequence. Some are specific to this profile as they are specific to the observation of the sequence.

TODO: gene-studied, chromosome-location, dna-region-name TODO: variant.start, variant.end TODO: inner-start-end, outer-start-end TODO other property groups