This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions
Defining URL: | http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/sequence-phase-relationship |
Version: | 2.0.0 |
Name: | SequencePhaseRelationship |
Title: | Sequence Phase Relationship |
Status: | Active as of 2022-05-09 04:53:07+0000 |
Definition: | Indicates whether two entities are in Cis (same strand) or Trans (opposite strand) relationship to each other. |
Publisher: | HL7 Clinical Genomics Working Group |
Copyright: | This material contains content from LOINC (http://loinc.org). LOINC is copyright © 1995-2020, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license at http://loinc.org/license. LOINC® is a registered United States trademark of Regenstrief Institute, Inc. |
Source Resource: | XML / JSON / Turtle |
The official URL for this profile is:
http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/sequence-phase-relationship
A sequence phase relationship asserts a specific type of relationship between two variants or haplotypes.
Humans inherit a copy of each autosome from mother and father - each cell contains, for instance, a maternally-derived and a paternally-derived chromosome 7. We refer to the two chromosomes as 'homologous', and we can refer to each of the chromosomes as 'homologs'.
Where a person has two variants (or haplotypes) on chromosome 7, those variants can both be on the same homolog (i.e. both variants are on the maternally-derived chromosome), or those variants can be on different homologs (i.e. one variant is on the maternally-derived chromosome and one variant is on the paternally-derived chromosome).
Where the two variants are on the same homolog, the variants are said to be in a 'Cis' relationship. Where the two variants are on different homologs, the variants are said to be in a 'Trans' relationship.
Description of Profiles, Differentials, Snapshots and how the different presentations work.
This structure is derived from GenomicFinding
Summary
Mandatory: 1 element
Structures
This structure refers to these other structures:
Slices
This structure defines the following Slices:
This structure is derived from GenomicFinding
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
Observation | 0..* | GenomicFinding | Measurements and simple assertions | |
code | 1..1 | CodeableConcept | 82120-7 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 82120-7 | |
value[x] | 1..1 | CodeableConcept | Cis | Trans | Indeterminate | Unknown Binding: Sequence Phase Relationships (required) | |
method | 0..1 | CodeableConcept | Directly measured | Family DNA | Family history | Inferred from population data Binding: LOINC Answer List LL4050-2 (extensible) | |
Slices for derivedFrom | 0..* | Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) | Related measurements the observation is made from Slice: Unordered, Open by profile:resolve() | |
derivedFrom:variant | 0..* | Reference(Variant) | Variant in the relationship | |
derivedFrom:haplotype | 0..* | Reference(Haplotype) | Haplotype in the relationship | |
Documentation for this format |
Name | Flags | Card. | Type | Description & Constraints | ||||
---|---|---|---|---|---|---|---|---|
Observation | I | 0..* | GenomicFinding | Measurements and simple assertions | ||||
id | Σ | 0..1 | string | Logical id of this artifact | ||||
meta | Σ | 0..1 | Meta | Metadata about the resource | ||||
implicitRules | ?!Σ | 0..1 | uri | A set of rules under which this content was created | ||||
language | 0..1 | code | Language of the resource content Binding: CommonLanguages (preferred): A human language.
| |||||
text | 0..1 | Narrative | Text summary of the resource, for human interpretation | |||||
contained | 0..* | Resource | Contained, inline Resources | |||||
Slices for extension | 0..* | Extension | Extension Slice: Unordered, Open by value:url | |||||
observation-secondaryFinding | 0..1 | CodeableConcept | Secondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when [Whole Exome Sequencing (WES)](https://en.wikipedia.org/wiki/Exome_sequencing) or [Whole Genome Sequencing (WGS)](https://en.wikipedia.org/wiki/Whole_genome_sequencing) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement.
For more detail, please see:
https://ghr.nlm.nih.gov/primer/testing/secondaryfindings URL: http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding Binding: ObservationCategoryCodes (extensible): Codes to denote a guideline or policy statement.when a genetic test result is being shared as a secondary finding. | |||||
bodySite | 0..1 | Reference(BodyStructure) | Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite | |||||
modifierExtension | ?! | 0..* | Extension | Extensions that cannot be ignored | ||||
identifier | Σ | 0..* | Identifier | Business Identifier for observation | ||||
basedOn | Σ | 0..* | Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) | Fulfills plan, proposal or order | ||||
partOf | Σ | 0..* | Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy) | Part of referenced event | ||||
status | ?!Σ | 1..1 | code | registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation. | ||||
Slices for category | 1..* | CodeableConcept | Classification of type of observation Slice: Unordered, Open by value:coding Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. | |||||
category:labCategory | 1..1 | CodeableConcept | Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
Slices for extension | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |||||
coding | Σ | 1..* | Coding | Code defined by a terminology system Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: laboratory | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | Σ | 0..1 | string | Plain text representation of the concept | ||||
code | Σ | 1..1 | CodeableConcept | 82120-7 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 82120-7 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
subject | Σ | 0..1 | Reference(Patient | Group | Device | Location) | Who and/or what the observation is about | ||||
focus | Σ | 0..* | Reference(Resource) | What the observation is about, when it is not about the subject of record | ||||
encounter | Σ | 0..1 | Reference(Encounter) | Healthcare event during which this observation is made | ||||
effective[x] | Σ | 0..1 | Clinically relevant time/time-period for observation | |||||
effectiveDateTime | dateTime | |||||||
effectivePeriod | Period | |||||||
effectiveTiming | Timing | |||||||
effectiveInstant | instant | |||||||
issued | Σ | 0..1 | instant | Date/Time this version was made available | ||||
performer | Σ | 0..* | Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson) | Who is responsible for the observation | ||||
value[x] | ΣI | 1..1 | CodeableConcept | Cis | Trans | Indeterminate | Unknown Binding: Sequence Phase Relationships (required) | ||||
dataAbsentReason | I | 0..1 | CodeableConcept | Why the result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
note | 0..* | CodedAnnotation | Comments about the Observation that also contain a coded type | |||||
bodySite | 0..1 | CodeableConcept | Observed body part Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality. | |||||
method | 0..1 | CodeableConcept | Directly measured | Family DNA | Family history | Inferred from population data Binding: LOINC Answer List LL4050-2 (extensible) | |||||
specimen | 0..1 | Reference(Specimen) | Specimen used for this observation | |||||
device | 0..1 | Reference(Device | DeviceMetric) | (Measurement) Device | |||||
referenceRange | I | 0..* | BackboneElement | Provides guide for interpretation | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
low | I | 0..1 | SimpleQuantity | Low Range, if relevant | ||||
high | I | 0..1 | SimpleQuantity | High Range, if relevant | ||||
type | 0..1 | CodeableConcept | Reference range qualifier Binding: ObservationReferenceRangeMeaningCodes (preferred): Code for the meaning of a reference range. | |||||
appliesTo | 0..* | CodeableConcept | Reference range population Binding: ObservationReferenceRangeAppliesToCodes (example): Codes identifying the population the reference range applies to. | |||||
age | 0..1 | Range | Applicable age range, if relevant | |||||
text | 0..1 | string | Text based reference range in an observation | |||||
hasMember | Σ | 0..* | Reference(Observation | QuestionnaireResponse | MolecularSequence) | Related resource that belongs to the Observation group | ||||
Slices for derivedFrom | Σ | 0..* | Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) | Related measurements the observation is made from Slice: Unordered, Open by profile:resolve() | ||||
derivedFrom:variant | Σ | 0..* | Reference(Variant) | Variant in the relationship | ||||
derivedFrom:haplotype | Σ | 0..* | Reference(Haplotype) | Haplotype in the relationship | ||||
Slices for component | Σ | 0..* | BackboneElement | Component results Slice: Unordered, Open by pattern:code | ||||
component:All Slices | Content/Rules for all slices | |||||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. | ||||
value[x] | Σ | 0..1 | Actual component result | |||||
valueQuantity | Quantity | |||||||
valueCodeableConcept | CodeableConcept | |||||||
valueString | string | |||||||
valueBoolean | boolean | |||||||
valueInteger | integer | |||||||
valueRange | Range | |||||||
valueRatio | Ratio | |||||||
valueSampledData | SampledData | |||||||
valueTime | time | |||||||
valueDateTime | dateTime | |||||||
valuePeriod | Period | |||||||
dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:conclusion-string | Σ | 0..1 | BackboneElement | Clinical Conclusion | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | conclusion-string Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: conclusion-string | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 0..1 | string | Summary conclusion (interpretation/impression) | ||||
dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:gene-studied | Σ | 0..* | BackboneElement | Gene Studied | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 48018-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48018-6 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | The HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible) | ||||
dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:cytogenetic-location | Σ | 0..* | BackboneElement | Cytogenetic (Chromosome) Location | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 48001-2 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48001-2 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | Example: 1q21.1 | ||||
dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:reference-sequence-assembly | Σ | 0..* | BackboneElement | Human Reference Sequence Assembly | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 62374-4 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 62374-4 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | GRCh37 | GRCh38 | ... Binding: LOINC Answer List LL1040-6 (extensible) | ||||
dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
Documentation for this format |
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
Observation | I | 0..* | GenomicFinding | Measurements and simple assertions |
Documentation for this format |
This structure is derived from GenomicFinding
Summary
Mandatory: 1 element
Structures
This structure refers to these other structures:
Slices
This structure defines the following Slices:
Differential View
This structure is derived from GenomicFinding
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
Observation | 0..* | GenomicFinding | Measurements and simple assertions | |
code | 1..1 | CodeableConcept | 82120-7 Required Pattern: At least the following | |
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 82120-7 | |
value[x] | 1..1 | CodeableConcept | Cis | Trans | Indeterminate | Unknown Binding: Sequence Phase Relationships (required) | |
method | 0..1 | CodeableConcept | Directly measured | Family DNA | Family history | Inferred from population data Binding: LOINC Answer List LL4050-2 (extensible) | |
Slices for derivedFrom | 0..* | Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) | Related measurements the observation is made from Slice: Unordered, Open by profile:resolve() | |
derivedFrom:variant | 0..* | Reference(Variant) | Variant in the relationship | |
derivedFrom:haplotype | 0..* | Reference(Haplotype) | Haplotype in the relationship | |
Documentation for this format |
Snapshot View
Name | Flags | Card. | Type | Description & Constraints | ||||
---|---|---|---|---|---|---|---|---|
Observation | I | 0..* | GenomicFinding | Measurements and simple assertions | ||||
id | Σ | 0..1 | string | Logical id of this artifact | ||||
meta | Σ | 0..1 | Meta | Metadata about the resource | ||||
implicitRules | ?!Σ | 0..1 | uri | A set of rules under which this content was created | ||||
language | 0..1 | code | Language of the resource content Binding: CommonLanguages (preferred): A human language.
| |||||
text | 0..1 | Narrative | Text summary of the resource, for human interpretation | |||||
contained | 0..* | Resource | Contained, inline Resources | |||||
Slices for extension | 0..* | Extension | Extension Slice: Unordered, Open by value:url | |||||
observation-secondaryFinding | 0..1 | CodeableConcept | Secondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when [Whole Exome Sequencing (WES)](https://en.wikipedia.org/wiki/Exome_sequencing) or [Whole Genome Sequencing (WGS)](https://en.wikipedia.org/wiki/Whole_genome_sequencing) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement.
For more detail, please see:
https://ghr.nlm.nih.gov/primer/testing/secondaryfindings URL: http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding Binding: ObservationCategoryCodes (extensible): Codes to denote a guideline or policy statement.when a genetic test result is being shared as a secondary finding. | |||||
bodySite | 0..1 | Reference(BodyStructure) | Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite | |||||
modifierExtension | ?! | 0..* | Extension | Extensions that cannot be ignored | ||||
identifier | Σ | 0..* | Identifier | Business Identifier for observation | ||||
basedOn | Σ | 0..* | Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) | Fulfills plan, proposal or order | ||||
partOf | Σ | 0..* | Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy) | Part of referenced event | ||||
status | ?!Σ | 1..1 | code | registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation. | ||||
Slices for category | 1..* | CodeableConcept | Classification of type of observation Slice: Unordered, Open by value:coding Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. | |||||
category:labCategory | 1..1 | CodeableConcept | Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories. | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
Slices for extension | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url | |||||
coding | Σ | 1..* | Coding | Code defined by a terminology system Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://terminology.hl7.org/CodeSystem/observation-category | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: laboratory | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | Σ | 0..1 | string | Plain text representation of the concept | ||||
code | Σ | 1..1 | CodeableConcept | 82120-7 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 82120-7 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
subject | Σ | 0..1 | Reference(Patient | Group | Device | Location) | Who and/or what the observation is about | ||||
focus | Σ | 0..* | Reference(Resource) | What the observation is about, when it is not about the subject of record | ||||
encounter | Σ | 0..1 | Reference(Encounter) | Healthcare event during which this observation is made | ||||
effective[x] | Σ | 0..1 | Clinically relevant time/time-period for observation | |||||
effectiveDateTime | dateTime | |||||||
effectivePeriod | Period | |||||||
effectiveTiming | Timing | |||||||
effectiveInstant | instant | |||||||
issued | Σ | 0..1 | instant | Date/Time this version was made available | ||||
performer | Σ | 0..* | Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson) | Who is responsible for the observation | ||||
value[x] | ΣI | 1..1 | CodeableConcept | Cis | Trans | Indeterminate | Unknown Binding: Sequence Phase Relationships (required) | ||||
dataAbsentReason | I | 0..1 | CodeableConcept | Why the result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
note | 0..* | CodedAnnotation | Comments about the Observation that also contain a coded type | |||||
bodySite | 0..1 | CodeableConcept | Observed body part Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality. | |||||
method | 0..1 | CodeableConcept | Directly measured | Family DNA | Family history | Inferred from population data Binding: LOINC Answer List LL4050-2 (extensible) | |||||
specimen | 0..1 | Reference(Specimen) | Specimen used for this observation | |||||
device | 0..1 | Reference(Device | DeviceMetric) | (Measurement) Device | |||||
referenceRange | I | 0..* | BackboneElement | Provides guide for interpretation | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
low | I | 0..1 | SimpleQuantity | Low Range, if relevant | ||||
high | I | 0..1 | SimpleQuantity | High Range, if relevant | ||||
type | 0..1 | CodeableConcept | Reference range qualifier Binding: ObservationReferenceRangeMeaningCodes (preferred): Code for the meaning of a reference range. | |||||
appliesTo | 0..* | CodeableConcept | Reference range population Binding: ObservationReferenceRangeAppliesToCodes (example): Codes identifying the population the reference range applies to. | |||||
age | 0..1 | Range | Applicable age range, if relevant | |||||
text | 0..1 | string | Text based reference range in an observation | |||||
hasMember | Σ | 0..* | Reference(Observation | QuestionnaireResponse | MolecularSequence) | Related resource that belongs to the Observation group | ||||
Slices for derivedFrom | Σ | 0..* | Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) | Related measurements the observation is made from Slice: Unordered, Open by profile:resolve() | ||||
derivedFrom:variant | Σ | 0..* | Reference(Variant) | Variant in the relationship | ||||
derivedFrom:haplotype | Σ | 0..* | Reference(Haplotype) | Haplotype in the relationship | ||||
Slices for component | Σ | 0..* | BackboneElement | Component results Slice: Unordered, Open by pattern:code | ||||
component:All Slices | Content/Rules for all slices | |||||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example): Codes identifying names of simple observations. | ||||
value[x] | Σ | 0..1 | Actual component result | |||||
valueQuantity | Quantity | |||||||
valueCodeableConcept | CodeableConcept | |||||||
valueString | string | |||||||
valueBoolean | boolean | |||||||
valueInteger | integer | |||||||
valueRange | Range | |||||||
valueRatio | Ratio | |||||||
valueSampledData | SampledData | |||||||
valueTime | time | |||||||
valueDateTime | dateTime | |||||||
valuePeriod | Period | |||||||
dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:conclusion-string | Σ | 0..1 | BackboneElement | Clinical Conclusion | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | conclusion-string Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: conclusion-string | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 0..1 | string | Summary conclusion (interpretation/impression) | ||||
dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:gene-studied | Σ | 0..* | BackboneElement | Gene Studied | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 48018-6 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48018-6 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | The HGNC gene symbol is to be used as display text and the HGNC gene ID used as the code. If no HGNC code issued for this gene yet, NCBI gene IDs SHALL be used. Binding: HUGO Gene Nomenclature Committee Gene Names (HGNC) (extensible) | ||||
dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:cytogenetic-location | Σ | 0..* | BackboneElement | Cytogenetic (Chromosome) Location | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 48001-2 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 48001-2 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | Example: 1q21.1 | ||||
dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
component:reference-sequence-assembly | Σ | 0..* | BackboneElement | Human Reference Sequence Assembly | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
code | Σ | 1..1 | CodeableConcept | 62374-4 Binding: LOINCCodes (example): Codes identifying names of simple observations. Required Pattern: At least the following | ||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
coding | 1..* | Coding | Code defined by a terminology system Fixed Value: (complex) | |||||
id | 0..1 | string | Unique id for inter-element referencing | |||||
extension | 0..* | Extension | Additional content defined by implementations | |||||
system | 1..1 | uri | Identity of the terminology system Fixed Value: http://loinc.org | |||||
version | 0..1 | string | Version of the system - if relevant | |||||
code | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 62374-4 | |||||
display | 0..1 | string | Representation defined by the system | |||||
userSelected | 0..1 | boolean | If this coding was chosen directly by the user | |||||
text | 0..1 | string | Plain text representation of the concept | |||||
value[x] | Σ | 1..1 | CodeableConcept | GRCh37 | GRCh38 | ... Binding: LOINC Answer List LL1040-6 (extensible) | ||||
dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing. | ||||
interpretation | 0..* | CodeableConcept | High, low, normal, etc. Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations. | |||||
referenceRange | 0..* | See referenceRange (Observation) | Provides guide for interpretation of component result | |||||
Documentation for this format |
Other representations of profile: CSV, Excel, Schematron
Path | Conformance | ValueSet / Code |
Observation.language | preferred | CommonLanguages Max Binding: AllLanguages |
Observation.status | required | ObservationStatus |
Observation.category | preferred | ObservationCategoryCodes |
Observation.category:labCategory | preferred | ObservationCategoryCodes |
Observation.code | example | Pattern: LOINC code 82120-7 |
Observation.value[x] | required | SequencePhaseRelationshipVS |
Observation.dataAbsentReason | extensible | DataAbsentReason |
Observation.interpretation | extensible | ObservationInterpretationCodes |
Observation.bodySite | example | SNOMEDCTBodyStructures |
Observation.method | extensible | LOINC LL4050-2 |
Observation.referenceRange.type | preferred | ObservationReferenceRangeMeaningCodes |
Observation.referenceRange.appliesTo | example | ObservationReferenceRangeAppliesToCodes |
Observation.component.code | example | LOINCCodes |
Observation.component.dataAbsentReason | extensible | DataAbsentReason |
Observation.component.interpretation | extensible | ObservationInterpretationCodes |
Observation.component:conclusion-string.code | example | Pattern: conclusion-string |
Observation.component:conclusion-string.dataAbsentReason | extensible | DataAbsentReason |
Observation.component:conclusion-string.interpretation | extensible | ObservationInterpretationCodes |
Observation.component:gene-studied.code | example | Pattern: LOINC code 48018-6 |
Observation.component:gene-studied.value[x] | extensible | HGNCVS |
Observation.component:gene-studied.dataAbsentReason | extensible | DataAbsentReason |
Observation.component:gene-studied.interpretation | extensible | ObservationInterpretationCodes |
Observation.component:cytogenetic-location.code | example | Pattern: LOINC code 48001-2 |
Observation.component:cytogenetic-location.dataAbsentReason | extensible | DataAbsentReason |
Observation.component:cytogenetic-location.interpretation | extensible | ObservationInterpretationCodes |
Observation.component:reference-sequence-assembly.code | example | Pattern: LOINC code 62374-4 |
Observation.component:reference-sequence-assembly.value[x] | extensible | LOINC LL1040-6 |
Observation.component:reference-sequence-assembly.dataAbsentReason | extensible | DataAbsentReason |
Observation.component:reference-sequence-assembly.interpretation | extensible | ObservationInterpretationCodes |
Id | Grade | Path | Details | Requirements |
dom-2 | error | Observation | If the resource is contained in another resource, it SHALL NOT contain nested Resources : contained.contained.empty() | |
dom-3 | error | Observation | If the resource is contained in another resource, it SHALL be referred to from elsewhere in the resource or SHALL refer to the containing resource : contained.where((('#'+id in (%resource.descendants().reference | %resource.descendants().as(canonical) | %resource.descendants().as(uri) | %resource.descendants().as(url))) or descendants().where(reference = '#').exists() or descendants().where(as(canonical) = '#').exists() or descendants().where(as(canonical) = '#').exists()).not()).trace('unmatched', id).empty() | |
dom-4 | error | Observation | If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated : contained.meta.versionId.empty() and contained.meta.lastUpdated.empty() | |
dom-5 | error | Observation | If a resource is contained in another resource, it SHALL NOT have a security label : contained.meta.security.empty() | |
dom-6 | Best Practice | Observation | A resource should have narrative for robust management : text.`div`.exists() | |
obs-6 | error | Observation | dataAbsentReason SHALL only be present if Observation.value[x] is not present : dataAbsentReason.empty() or value.empty() | |
obs-7 | error | Observation | If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present : value.empty() or component.code.where(coding.intersect(%resource.code.coding).exists()).empty() | |
ele-1 | error | Observation.meta | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.implicitRules | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.language | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.text | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.extension | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ext-1 | error | Observation.extension | Must have either extensions or value[x], not both : extension.exists() != value.exists() | |
ele-1 | error | Observation.extension:secondary-finding | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ext-1 | error | Observation.extension:secondary-finding | Must have either extensions or value[x], not both : extension.exists() != value.exists() | |
ele-1 | error | Observation.extension:body-structure | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ext-1 | error | Observation.extension:body-structure | Must have either extensions or value[x], not both : extension.exists() != value.exists() | |
ele-1 | error | Observation.modifierExtension | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ext-1 | error | Observation.modifierExtension | Must have either extensions or value[x], not both : extension.exists() != value.exists() | |
ele-1 | error | Observation.identifier | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.basedOn | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.partOf | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.status | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.category | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.category:labCategory | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.category:labCategory.extension | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ext-1 | error | Observation.category:labCategory.extension | Must have either extensions or value[x], not both : extension.exists() != value.exists() | |
ele-1 | error | Observation.category:labCategory.coding | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.category:labCategory.text | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.code | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.subject | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.focus | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.encounter | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.effective[x] | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.issued | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.performer | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.value[x] | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.dataAbsentReason | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.interpretation | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.note | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.bodySite | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.method | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.specimen | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.device | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.referenceRange | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
obs-3 | error | Observation.referenceRange | Must have at least a low or a high or text : low.exists() or high.exists() or text.exists() | |
ele-1 | error | Observation.referenceRange.extension | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ext-1 | error | Observation.referenceRange.extension | Must have either extensions or value[x], not both : extension.exists() != value.exists() | |
ele-1 | error | Observation.referenceRange.modifierExtension | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ext-1 | error | Observation.referenceRange.modifierExtension | Must have either extensions or value[x], not both : extension.exists() != value.exists() | |
ele-1 | error | Observation.referenceRange.low | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.referenceRange.high | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.referenceRange.type | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.referenceRange.appliesTo | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.referenceRange.age | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.referenceRange.text | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.hasMember | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.derivedFrom | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.derivedFrom:variant | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.derivedFrom:haplotype | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.component | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.component.extension | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ext-1 | error | Observation.component.extension | Must have either extensions or value[x], not both : extension.exists() != value.exists() | |
ele-1 | error | Observation.component.modifierExtension | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ext-1 | error | Observation.component.modifierExtension | Must have either extensions or value[x], not both : extension.exists() != value.exists() | |
ele-1 | error | Observation.component.code | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.component.value[x] | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.component.dataAbsentReason | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.component.interpretation | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.component.referenceRange | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.component:conclusion-string | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.component:conclusion-string.extension | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ext-1 | error | Observation.component:conclusion-string.extension | Must have either extensions or value[x], not both : extension.exists() != value.exists() | |
ele-1 | error | Observation.component:conclusion-string.modifierExtension | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ext-1 | error | Observation.component:conclusion-string.modifierExtension | Must have either extensions or value[x], not both : extension.exists() != value.exists() | |
ele-1 | error | Observation.component:conclusion-string.code | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.component:conclusion-string.value[x] | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.component:conclusion-string.dataAbsentReason | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.component:conclusion-string.interpretation | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.component:conclusion-string.referenceRange | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.component:gene-studied | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.component:gene-studied.extension | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ext-1 | error | Observation.component:gene-studied.extension | Must have either extensions or value[x], not both : extension.exists() != value.exists() | |
ele-1 | error | Observation.component:gene-studied.modifierExtension | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ext-1 | error | Observation.component:gene-studied.modifierExtension | Must have either extensions or value[x], not both : extension.exists() != value.exists() | |
ele-1 | error | Observation.component:gene-studied.code | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.component:gene-studied.value[x] | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.component:gene-studied.dataAbsentReason | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.component:gene-studied.interpretation | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.component:gene-studied.referenceRange | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.component:cytogenetic-location | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.component:cytogenetic-location.extension | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ext-1 | error | Observation.component:cytogenetic-location.extension | Must have either extensions or value[x], not both : extension.exists() != value.exists() | |
ele-1 | error | Observation.component:cytogenetic-location.modifierExtension | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ext-1 | error | Observation.component:cytogenetic-location.modifierExtension | Must have either extensions or value[x], not both : extension.exists() != value.exists() | |
ele-1 | error | Observation.component:cytogenetic-location.code | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.component:cytogenetic-location.value[x] | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.component:cytogenetic-location.dataAbsentReason | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.component:cytogenetic-location.interpretation | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.component:cytogenetic-location.referenceRange | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.component:reference-sequence-assembly | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.component:reference-sequence-assembly.extension | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ext-1 | error | Observation.component:reference-sequence-assembly.extension | Must have either extensions or value[x], not both : extension.exists() != value.exists() | |
ele-1 | error | Observation.component:reference-sequence-assembly.modifierExtension | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ext-1 | error | Observation.component:reference-sequence-assembly.modifierExtension | Must have either extensions or value[x], not both : extension.exists() != value.exists() | |
ele-1 | error | Observation.component:reference-sequence-assembly.code | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.component:reference-sequence-assembly.value[x] | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.component:reference-sequence-assembly.dataAbsentReason | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.component:reference-sequence-assembly.interpretation | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ele-1 | error | Observation.component:reference-sequence-assembly.referenceRange | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) |