This page is part of the Genetic Reporting Implementation Guide (v0.3.0: STU 1 Ballot 2) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions
The official URL for this profile is:
http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/obs-cytogenetic-nomenclature
Description of Profiles, Differentials, Snapshots and how the different presentations work.
This structure is derived from Genetic Observation Common Properties
This structure is derived from Genetic Observation Common Properties
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
Observation | 0..* | Cytogenetic Nomenclature | ||
code | S | 1..1 | CodeableConcept | Variant ISCN Required Pattern: {"coding":[{"system":"http://loinc.org","code":"81291-7"}]} |
valueCodeableConcept | S | 1..1 | CodeableConcept | Binding: (unbound) (example) |
specimen | S | 1..1 | Reference(Specimen) | Specimen examined |
Documentation for this format |
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
Observation | I | 0..* | Cytogenetic Nomenclature | |
id | Σ | 0..1 | id | Logical id of this artifact |
meta | Σ | 0..1 | Meta | Metadata about the resource |
implicitRules | ?!Σ | 0..1 | uri | A set of rules under which this content was created |
language | 0..1 | code | Language of the resource content Binding: CommonLanguages (preferred) | |
text | 0..1 | Narrative | Text summary of the resource, for human interpretation | |
contained | 0..* | Resource | Contained, inline Resources | |
extension | 0..* | Extension | Extension Slice: Unordered, Open by value:url | |
bodySite | I | 0..1 | Reference(BodyStructure) | Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite |
observation-secondaryFinding | I | 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) |
modifierExtension | ?! | 0..* | Extension | Extensions that cannot be ignored |
identifier | Σ | 0..* | Identifier | Business Identifier for observation |
basedOn | SΣ | 0..* | Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) | Fulfills plan, proposal or order |
partOf | Σ | 0..* | Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy) | Part of referenced event |
status | ?!SΣ | 1..1 | code | registered | preliminary | final | amended + Binding: ObservationStatus (required) |
category | S | 1..* | CodeableConcept | Classification of type of observation Binding: ObservationCategoryCodes (preferred) Required Pattern: {"coding":[{"system":"http://terminology.hl7.org/CodeSystem/observation-category","code":"laboratory"}]} |
code | SΣ | 1..1 | CodeableConcept | Variant ISCN Binding: LOINCCodes (example) Required Pattern: {"coding":[{"system":"http://loinc.org","code":"81291-7"}]} |
subject | SΣ | 0..1 | Reference(Patient | Group | 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] | SΣ | 0..1 | dateTime, Period, Timing, instant | Clinically relevant time/time-period for observation |
issued | SΣ | 0..1 | instant | Date/Time this version was made available |
performer | SΣ | 0..1 | Reference(Practitioner | Organization | Patient | RelatedPerson) | Who is responsible for the observation |
valueCodeableConcept | SΣI | 1..1 | CodeableConcept | Actual result Binding: (unbound) (example) |
dataAbsentReason | I | 0..1 | CodeableConcept | Why the result is missing Binding: DataAbsentReason (extensible) |
note | 0..* | Annotation | Comments about the observation | |
bodySite | 0..1 | CodeableConcept | Observed body part Binding: SNOMEDCTBodyStructures (example) | |
method | 0..1 | CodeableConcept | How it was done Binding: ObservationMethods (example) | |
specimen | S | 1..1 | Reference(Specimen) | Specimen examined |
device | 0..1 | Reference(Device | DeviceMetric) | (Measurement) Device | |
referenceRange | I | 0..* | BackboneElement | Provides guide for interpretation obs-3: Must have at least a low or a high or text |
id | 0..1 | string | Unique id for inter-element referencing | |
extension | 0..* | Extension | Additional content defined by implementations | |
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
low | 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) | |
appliesTo | 0..* | CodeableConcept | Reference range population Binding: ObservationReferenceRangeAppliesToCodes (example) | |
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 |
derivedFrom | Σ | 0..* | Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) | Related measurements the observation is made from |
component | ΣI | 0..* | BackboneElement | Component results |
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) |
value[x] | Σ | 0..1 | Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period | Actual component result |
dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible) |
referenceRange | 0..* | Unknown reference to #Observation.referenceRange Provides guide for interpretation of component result | ||
Documentation for this format |
This structure is derived from Genetic Observation Common Properties
Differential View
This structure is derived from Genetic Observation Common Properties
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
Observation | 0..* | Cytogenetic Nomenclature | ||
code | S | 1..1 | CodeableConcept | Variant ISCN Required Pattern: {"coding":[{"system":"http://loinc.org","code":"81291-7"}]} |
valueCodeableConcept | S | 1..1 | CodeableConcept | Binding: (unbound) (example) |
specimen | S | 1..1 | Reference(Specimen) | Specimen examined |
Documentation for this format |
Snapshot View
Name | Flags | Card. | Type | Description & Constraints |
---|---|---|---|---|
Observation | I | 0..* | Cytogenetic Nomenclature | |
id | Σ | 0..1 | id | Logical id of this artifact |
meta | Σ | 0..1 | Meta | Metadata about the resource |
implicitRules | ?!Σ | 0..1 | uri | A set of rules under which this content was created |
language | 0..1 | code | Language of the resource content Binding: CommonLanguages (preferred) | |
text | 0..1 | Narrative | Text summary of the resource, for human interpretation | |
contained | 0..* | Resource | Contained, inline Resources | |
extension | 0..* | Extension | Extension Slice: Unordered, Open by value:url | |
bodySite | I | 0..1 | Reference(BodyStructure) | Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite |
observation-secondaryFinding | I | 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) |
modifierExtension | ?! | 0..* | Extension | Extensions that cannot be ignored |
identifier | Σ | 0..* | Identifier | Business Identifier for observation |
basedOn | SΣ | 0..* | Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) | Fulfills plan, proposal or order |
partOf | Σ | 0..* | Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy) | Part of referenced event |
status | ?!SΣ | 1..1 | code | registered | preliminary | final | amended + Binding: ObservationStatus (required) |
category | S | 1..* | CodeableConcept | Classification of type of observation Binding: ObservationCategoryCodes (preferred) Required Pattern: {"coding":[{"system":"http://terminology.hl7.org/CodeSystem/observation-category","code":"laboratory"}]} |
code | SΣ | 1..1 | CodeableConcept | Variant ISCN Binding: LOINCCodes (example) Required Pattern: {"coding":[{"system":"http://loinc.org","code":"81291-7"}]} |
subject | SΣ | 0..1 | Reference(Patient | Group | 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] | SΣ | 0..1 | dateTime, Period, Timing, instant | Clinically relevant time/time-period for observation |
issued | SΣ | 0..1 | instant | Date/Time this version was made available |
performer | SΣ | 0..1 | Reference(Practitioner | Organization | Patient | RelatedPerson) | Who is responsible for the observation |
valueCodeableConcept | SΣI | 1..1 | CodeableConcept | Actual result Binding: (unbound) (example) |
dataAbsentReason | I | 0..1 | CodeableConcept | Why the result is missing Binding: DataAbsentReason (extensible) |
note | 0..* | Annotation | Comments about the observation | |
bodySite | 0..1 | CodeableConcept | Observed body part Binding: SNOMEDCTBodyStructures (example) | |
method | 0..1 | CodeableConcept | How it was done Binding: ObservationMethods (example) | |
specimen | S | 1..1 | Reference(Specimen) | Specimen examined |
device | 0..1 | Reference(Device | DeviceMetric) | (Measurement) Device | |
referenceRange | I | 0..* | BackboneElement | Provides guide for interpretation obs-3: Must have at least a low or a high or text |
id | 0..1 | string | Unique id for inter-element referencing | |
extension | 0..* | Extension | Additional content defined by implementations | |
modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
low | 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) | |
appliesTo | 0..* | CodeableConcept | Reference range population Binding: ObservationReferenceRangeAppliesToCodes (example) | |
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 |
derivedFrom | Σ | 0..* | Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) | Related measurements the observation is made from |
component | ΣI | 0..* | BackboneElement | Component results |
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) |
value[x] | Σ | 0..1 | Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period | Actual component result |
dataAbsentReason | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible) |
referenceRange | 0..* | Unknown reference to #Observation.referenceRange Provides guide for interpretation of component result | ||
Documentation for this format |
Other representations of profile: Schematron
Path | Name | Conformance | ValueSet |
Observation.language | Common Languages | preferred | CommonLanguages |
Observation.status | ObservationStatus | required | ObservationStatus |
Observation.category | Observation Category Codes | preferred | ObservationCategoryCodes |
Observation.code | LOINC Codes | example | LOINCCodes |
Observation.valueCodeableConcept | ?ext | example | |
Observation.dataAbsentReason | DataAbsentReason | extensible | DataAbsentReason |
Observation.bodySite | SNOMED CT Body Structures | example | SNOMEDCTBodyStructures |
Observation.method | Observation Methods | example | ObservationMethods |
Observation.referenceRange.type | Observation Reference Range Meaning Codes | preferred | ObservationReferenceRangeMeaningCodes |
Observation.referenceRange.appliesTo | Observation Reference Range Applies To Codes | example | ObservationReferenceRangeAppliesToCodes |
Observation.component.code | LOINC Codes | example | LOINCCodes |
Observation.component.dataAbsentReason | DataAbsentReason | extensible | DataAbsentReason |
Id | Path | Details | Requirements |
dom-2 | Observation | If the resource is contained in another resource, it SHALL NOT contain nested Resources : contained.contained.empty() | |
dom-4 | 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-3 | 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-6 | Observation | A resource should have narrative for robust management : text.div.exists() | |
dom-5 | Observation | If a resource is contained in another resource, it SHALL NOT have a security label : contained.meta.security.empty() | |
obs-7 | 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.code = %resource.code.coding.code) and (coding.system = %resource.code.coding.system)).empty() | |
obs-6 | Observation | dataAbsentReason SHALL only be present if Observation.value[x] is not present : dataAbsentReason.empty() or value.empty() | |
ele-1 | Observation.extension | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ext-1 | Observation.extension | Must have either extensions or value[x], not both : extension.exists() != value.exists() | |
ele-1 | Observation.extension | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ext-1 | Observation.extension | Must have either extensions or value[x], not both : extension.exists() != value.exists() | |
ele-1 | Observation.extension | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
ext-1 | Observation.extension | Must have either extensions or value[x], not both : extension.exists() != value.exists() | |
ele-1 | Observation.referenceRange | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) | |
obs-3 | Observation.referenceRange | Must have at least a low or a high or text : low.exists() or high.exists() or text.exists() | |
ele-1 | Observation.component | All FHIR elements must have a @value or children : hasValue() or (children().count() > id.count()) |