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-deletion-dup
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![]() |
|---|---|---|---|---|
![]() | 0..* | Deletion-duplication overall interpretation | ||
![]() ![]() | S | 1..1 | CodeableConcept | Deletion-duplication overall interpretation Required Pattern: {"coding":[{"system":"http://loinc.org","code":"83006-7"}]} |
![]() ![]() | S | 1..1 | CodeableConcept | Type of deletion or duplication Binding: LOINC Answer List LL4166-6 (required) |
![]() ![]() | S | 0..1 | Reference(Specimen) | Specimen examined |
Documentation for this format | ||||
| Name | Flags | Card. | Type | Description & Constraints![]() |
|---|---|---|---|---|
![]() | I | 0..* | Deletion-duplication overall interpretation | |
![]() ![]() | Σ | 0..1 | id | Logical id of this artifact |
![]() ![]() | Σ | 0..1 | Meta | Metadata about the resource |
![]() ![]() | ?!Σ | 0..1 | uri | A set of rules under which this content was created |
![]() ![]() | 0..1 | code | Language of the resource content Binding: CommonLanguages (preferred) | |
![]() ![]() | 0..1 | Narrative | Text summary of the resource, for human interpretation | |
![]() ![]() | 0..* | Resource | Contained, inline Resources | |
![]() ![]() | 0..* | Extension | Extension Slice: Unordered, Open by value:url | |
![]() ![]() | I | 0..1 | Reference(BodyStructure) | Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite |
![]() ![]() | 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) |
![]() ![]() | ?! | 0..* | Extension | Extensions that cannot be ignored |
![]() ![]() | Σ | 0..* | Identifier | Business Identifier for observation |
![]() ![]() | SΣ | 0..* | Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) | Fulfills plan, proposal or order |
![]() ![]() | Σ | 0..* | Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy) | Part of referenced event |
![]() ![]() | ?!SΣ | 1..1 | code | registered | preliminary | final | amended + Binding: ObservationStatus (required) |
![]() ![]() | S | 1..* | CodeableConcept | Classification of type of observation Binding: ObservationCategoryCodes (preferred) Required Pattern: {"coding":[{"system":"http://terminology.hl7.org/CodeSystem/observation-category","code":"laboratory"}]} |
![]() ![]() | SΣ | 1..1 | CodeableConcept | Deletion-duplication overall interpretation Binding: LOINCCodes (example) Required Pattern: {"coding":[{"system":"http://loinc.org","code":"83006-7"}]} |
![]() ![]() | SΣ | 0..1 | Reference(Patient | Group | Location) | Who and/or what the observation is about |
![]() ![]() | Σ | 0..* | Reference(Resource) | What the observation is about, when it is not about the subject of record |
![]() ![]() | Σ | 0..1 | Reference(Encounter) | Healthcare event during which this observation is made |
![]() ![]() | SΣ | 0..1 | dateTime, Period, Timing, instant | Clinically relevant time/time-period for observation |
![]() ![]() | SΣ | 0..1 | instant | Date/Time this version was made available |
![]() ![]() | SΣ | 0..1 | Reference(Practitioner | Organization | Patient | RelatedPerson) | Who is responsible for the observation |
![]() ![]() | SΣI | 1..1 | CodeableConcept | Type of deletion or duplication Binding: LOINC Answer List LL4166-6 (required) |
![]() ![]() | I | 0..1 | CodeableConcept | Why the result is missing Binding: DataAbsentReason (extensible) |
![]() ![]() | 0..* | Annotation | Comments about the observation | |
![]() ![]() | 0..1 | CodeableConcept | Observed body part Binding: SNOMEDCTBodyStructures (example) | |
![]() ![]() | 0..1 | CodeableConcept | How it was done Binding: ObservationMethods (example) | |
![]() ![]() | S | 0..1 | Reference(Specimen) | Specimen examined |
![]() ![]() | 0..1 | Reference(Device | DeviceMetric) | (Measurement) Device | |
![]() ![]() | I | 0..* | BackboneElement | Provides guide for interpretation obs-3: Must have at least a low or a high or text |
![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() | 0..* | Extension | Additional content defined by implementations | |
![]() ![]() ![]() | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
![]() ![]() ![]() | I | 0..1 | SimpleQuantity | Low Range, if relevant |
![]() ![]() ![]() | I | 0..1 | SimpleQuantity | High Range, if relevant |
![]() ![]() ![]() | 0..1 | CodeableConcept | Reference range qualifier Binding: ObservationReferenceRangeMeaningCodes (preferred) | |
![]() ![]() ![]() | 0..* | CodeableConcept | Reference range population Binding: ObservationReferenceRangeAppliesToCodes (example) | |
![]() ![]() ![]() | 0..1 | Range | Applicable age range, if relevant | |
![]() ![]() ![]() | 0..1 | string | Text based reference range in an observation | |
![]() ![]() | Σ | 0..* | Reference(Observation | QuestionnaireResponse | MolecularSequence) | Related resource that belongs to the Observation group |
![]() ![]() | Σ | 0..* | Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) | Related measurements the observation is made from |
![]() ![]() | ΣI | 0..* | BackboneElement | Component results |
![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() | 0..* | Extension | Additional content defined by implementations | |
![]() ![]() ![]() | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
![]() ![]() ![]() | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example) |
![]() ![]() ![]() | Σ | 0..1 | Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period | Actual component result |
![]() ![]() ![]() | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible) |
![]() ![]() ![]() | 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![]() |
|---|---|---|---|---|
![]() | 0..* | Deletion-duplication overall interpretation | ||
![]() ![]() | S | 1..1 | CodeableConcept | Deletion-duplication overall interpretation Required Pattern: {"coding":[{"system":"http://loinc.org","code":"83006-7"}]} |
![]() ![]() | S | 1..1 | CodeableConcept | Type of deletion or duplication Binding: LOINC Answer List LL4166-6 (required) |
![]() ![]() | S | 0..1 | Reference(Specimen) | Specimen examined |
Documentation for this format | ||||
Snapshot View
| Name | Flags | Card. | Type | Description & Constraints![]() |
|---|---|---|---|---|
![]() | I | 0..* | Deletion-duplication overall interpretation | |
![]() ![]() | Σ | 0..1 | id | Logical id of this artifact |
![]() ![]() | Σ | 0..1 | Meta | Metadata about the resource |
![]() ![]() | ?!Σ | 0..1 | uri | A set of rules under which this content was created |
![]() ![]() | 0..1 | code | Language of the resource content Binding: CommonLanguages (preferred) | |
![]() ![]() | 0..1 | Narrative | Text summary of the resource, for human interpretation | |
![]() ![]() | 0..* | Resource | Contained, inline Resources | |
![]() ![]() | 0..* | Extension | Extension Slice: Unordered, Open by value:url | |
![]() ![]() | I | 0..1 | Reference(BodyStructure) | Target anatomic location or structure URL: http://hl7.org/fhir/StructureDefinition/bodySite |
![]() ![]() | 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) |
![]() ![]() | ?! | 0..* | Extension | Extensions that cannot be ignored |
![]() ![]() | Σ | 0..* | Identifier | Business Identifier for observation |
![]() ![]() | SΣ | 0..* | Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest) | Fulfills plan, proposal or order |
![]() ![]() | Σ | 0..* | Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy) | Part of referenced event |
![]() ![]() | ?!SΣ | 1..1 | code | registered | preliminary | final | amended + Binding: ObservationStatus (required) |
![]() ![]() | S | 1..* | CodeableConcept | Classification of type of observation Binding: ObservationCategoryCodes (preferred) Required Pattern: {"coding":[{"system":"http://terminology.hl7.org/CodeSystem/observation-category","code":"laboratory"}]} |
![]() ![]() | SΣ | 1..1 | CodeableConcept | Deletion-duplication overall interpretation Binding: LOINCCodes (example) Required Pattern: {"coding":[{"system":"http://loinc.org","code":"83006-7"}]} |
![]() ![]() | SΣ | 0..1 | Reference(Patient | Group | Location) | Who and/or what the observation is about |
![]() ![]() | Σ | 0..* | Reference(Resource) | What the observation is about, when it is not about the subject of record |
![]() ![]() | Σ | 0..1 | Reference(Encounter) | Healthcare event during which this observation is made |
![]() ![]() | SΣ | 0..1 | dateTime, Period, Timing, instant | Clinically relevant time/time-period for observation |
![]() ![]() | SΣ | 0..1 | instant | Date/Time this version was made available |
![]() ![]() | SΣ | 0..1 | Reference(Practitioner | Organization | Patient | RelatedPerson) | Who is responsible for the observation |
![]() ![]() | SΣI | 1..1 | CodeableConcept | Type of deletion or duplication Binding: LOINC Answer List LL4166-6 (required) |
![]() ![]() | I | 0..1 | CodeableConcept | Why the result is missing Binding: DataAbsentReason (extensible) |
![]() ![]() | 0..* | Annotation | Comments about the observation | |
![]() ![]() | 0..1 | CodeableConcept | Observed body part Binding: SNOMEDCTBodyStructures (example) | |
![]() ![]() | 0..1 | CodeableConcept | How it was done Binding: ObservationMethods (example) | |
![]() ![]() | S | 0..1 | Reference(Specimen) | Specimen examined |
![]() ![]() | 0..1 | Reference(Device | DeviceMetric) | (Measurement) Device | |
![]() ![]() | I | 0..* | BackboneElement | Provides guide for interpretation obs-3: Must have at least a low or a high or text |
![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() | 0..* | Extension | Additional content defined by implementations | |
![]() ![]() ![]() | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
![]() ![]() ![]() | I | 0..1 | SimpleQuantity | Low Range, if relevant |
![]() ![]() ![]() | I | 0..1 | SimpleQuantity | High Range, if relevant |
![]() ![]() ![]() | 0..1 | CodeableConcept | Reference range qualifier Binding: ObservationReferenceRangeMeaningCodes (preferred) | |
![]() ![]() ![]() | 0..* | CodeableConcept | Reference range population Binding: ObservationReferenceRangeAppliesToCodes (example) | |
![]() ![]() ![]() | 0..1 | Range | Applicable age range, if relevant | |
![]() ![]() ![]() | 0..1 | string | Text based reference range in an observation | |
![]() ![]() | Σ | 0..* | Reference(Observation | QuestionnaireResponse | MolecularSequence) | Related resource that belongs to the Observation group |
![]() ![]() | Σ | 0..* | Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) | Related measurements the observation is made from |
![]() ![]() | ΣI | 0..* | BackboneElement | Component results |
![]() ![]() ![]() | 0..1 | string | Unique id for inter-element referencing | |
![]() ![]() ![]() | 0..* | Extension | Additional content defined by implementations | |
![]() ![]() ![]() | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized |
![]() ![]() ![]() | Σ | 1..1 | CodeableConcept | Type of component observation (code / type) Binding: LOINCCodes (example) |
![]() ![]() ![]() | Σ | 0..1 | Quantity, CodeableConcept, string, boolean, integer, Range, Ratio, SampledData, time, dateTime, Period | Actual component result |
![]() ![]() ![]() | I | 0..1 | CodeableConcept | Why the component result is missing Binding: DataAbsentReason (extensible) |
![]() ![]() ![]() | 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 | LOINC LL4166-6 | required | LOINC LL4166-6 |
| 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()) |