PanCareSurPass Project HL7 FHIR Implementation Guide
1.0.0 - release 150

PanCareSurPass Project HL7 FHIR Implementation Guide, published by PanCareSurPass Project. This guide is not an authorized publication; it is the continuous build for version 1.0.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/hl7-eu/pcsp/ and changes regularly. See the Directory of published versions

## Resource Profile: Observation: Hereditary Predisposition

Official URL: http://hl7.eu/fhir/ig/pcsp/StructureDefinition/Observation-predisposition-eu-pcsp | Version: 1.0.0
Active as of 2025-10-16 | Computable Name: ObservationHereditaryPredispositionPcsp

This profile defines how to represent Hereditary Predispositions in HL7 FHIR for the purpose of the PanCareSurPass project.

Usages:

- Use this Profile: Bundle: Survivor Passport
- Refer to this Profile: Condition: Primary Cancer

You can also check for usages in the FHIR IG Statistics

### Formal Views of Profile Content

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

- Key Elements Table
- Differential Table
- Snapshot Table
- Statistics/References
- All

Name | Flags | Card. | Type | Description & Constraints Filter: Bindings Constraints Obligations
--- | --- | --- | --- | ---
Observation | C | 0..* | Observation | Measurements and simple assertions Constraints: obs-6, obs-7
implicitRules | ?!Σ | 0..1 | uri | A set of rules under which this content was created
modifierExtension | ?! | 0..* | Extension | Extensions that cannot be ignored
status | ?!Σ | 1..1 | code | registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation.
code | Σ | 1..1 | CodeableConcept | Type of observation (code / type) 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://snomed.info/sct
version |  | 0..1 | string | Version of the system - if relevant
code |  | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 47708004
display |  | 1..1 | string | Representation defined by the system Fixed Value: Genetic predisposition
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 | 1..1 | Reference(Patient: PCSP) | Who and/or what the observation is about
Slices for value[x] | Σ C | 1..1 | CodeableConcept | Actual result Slice: Unordered, Closed by type:$this
value[x]:valueCodeableConcept | Σ C | 1..1 | CodeableConcept | Actual result
Slices for coding | Σ | 0..* | Coding | Code defined by a terminology system Slice: Unordered, Open by pattern:$this
coding:orpha | S Σ | 0..1 | Coding | Code defined by a terminology system Binding: Hereditary Predispositions (Orphacode) (required)
coding:icd10 | S Σ | 0..1 | Coding | Code defined by a terminology system Binding: Hereditary Predispositions (ICD10) (required)
Documentation for this format

#### Terminology Bindings

Path | Status | Usage | ValueSet | Version | Source
Observation.status | Base | required | ObservationStatus | 📍4.0.1 | FHIR Std.
Observation.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.value[x]:valueCodeableConcept.​coding:orpha | Base | required | Hereditary Predispositions (Orphacode) | 📦1.0.0 | This IG
Observation.value[x]:valueCodeableConcept.​coding:icd10 | Base | required | Hereditary Predispositions (ICD10) | 📦1.0.0 | This IG
Observation.component.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.

#### Constraints

Id | Grade | Path(s) | Description | Expression
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()`
ele-1 | error | **ALL** elements | All FHIR elements must have a @value or children | `hasValue() or (children().count() > id.count())`
ext-1 | error | **ALL** extensions | Must have either extensions or value[x], not both | `extension.exists() != value.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()`

This structure is derived from Observation

Name | Flags | Card. | Type | Description & Constraints Filter: Bindings Constraints Obligations
--- | --- | --- | --- | ---
Observation |  |  | Observation |
code |  | 1..1 | CodeableConcept | Type of observation (code / type) 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://snomed.info/sct
code |  | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 47708004
display |  | 1..1 | string | Representation defined by the system Fixed Value: Genetic predisposition
subject |  | 1..1 | Reference(Patient: PCSP) | Who and/or what the observation is about
Slices for value[x] |  | 1..1 | CodeableConcept | Actual result Slice: Unordered, Open by type:$this
value[x]:valueCodeableConcept |  | 1..1 | CodeableConcept | Actual result
Slices for coding |  | 0..* | Coding | Code defined by a terminology system Slice: Unordered, Open by pattern:$this
coding:orpha | S | 0..1 | Coding | Code defined by a terminology system Binding: Hereditary Predispositions (Orphacode) (required)
coding:icd10 | S | 0..1 | Coding | Code defined by a terminology system Binding: Hereditary Predispositions (ICD10) (required)
component |  | 0..0 |  |
Documentation for this format

#### Terminology Bindings (Differential)

Path | Status | Usage | ValueSet | Version | Source
Observation.value[x]:valueCodeableConcept.​coding:orpha | Base | required | Hereditary Predispositions (Orphacode) | 📦1.0.0 | This IG
Observation.value[x]:valueCodeableConcept.​coding:icd10 | Base | required | Hereditary Predispositions (ICD10) | 📦1.0.0 | This IG

Name | Flags | Card. | Type | Description & Constraints Filter: Bindings Constraints Obligations
--- | --- | --- | --- | ---
Observation | C | 0..* | Observation | Measurements and simple assertions Constraints: obs-6, obs-7
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): A human language.
Additional Bindings | Purpose
AllLanguages | Max Binding
text |  | 0..1 | Narrative | Text summary of the resource, for human interpretation This profile does not constrain the narrative in regard to content, language, or traceability to data elements
contained |  | 0..* | Resource | Contained, inline Resources
extension |  | 0..* | Extension | Additional content defined by implementations
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.
category |  | 0..* | CodeableConcept | Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
code | Σ | 1..1 | CodeableConcept | Type of observation (code / type) 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://snomed.info/sct
version |  | 0..1 | string | Version of the system - if relevant
code |  | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 47708004
display |  | 1..1 | string | Representation defined by the system Fixed Value: Genetic predisposition
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 | 1..1 | Reference(Patient: PCSP) | 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
Slices for value[x] | Σ C | 1..1 | CodeableConcept | Actual result Slice: Unordered, Closed by type:$this
value[x]:valueCodeableConcept | Σ C | 1..1 | CodeableConcept | Actual result
id |  | 0..1 | string | Unique id for inter-element referencing
extension |  | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url
Slices for coding | Σ | 0..* | Coding | Code defined by a terminology system Slice: Unordered, Open by pattern:$this
coding:orpha | S Σ | 0..1 | Coding | Code defined by a terminology system Binding: Hereditary Predispositions (Orphacode) (required)
coding:icd10 | S Σ | 0..1 | Coding | Code defined by a terminology system Binding: Hereditary Predispositions (ICD10) (required)
text | Σ | 0..1 | string | Plain text representation of the concept
dataAbsentReason | C | 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..* | Annotation | Comments about the observation
bodySite |  | 0..1 | CodeableConcept | Observed body part Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality.
method |  | 0..1 | CodeableConcept | How it was done Binding: ObservationMethods (example): Methods for simple observations.
specimen |  | 0..1 | Reference(Specimen) | Specimen used for this observation
device |  | 0..1 | Reference(Device | DeviceMetric) | (Measurement) Device
referenceRange | C | 0..* | BackboneElement | Provides guide for interpretation Constraints: obs-3
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 | C | 0..1 | SimpleQuantity(4.0.1) | Low Range, if relevant
high | C | 0..1 | SimpleQuantity(4.0.1) | 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
derivedFrom | Σ | 0..* | Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) | Related measurements the observation is made from
Documentation for this format

#### Terminology Bindings

Path | Status | Usage | ValueSet | Version | Source
Observation.language | Base | preferred | Common Languages | 📍4.0.1 | FHIR Std.
Observation.status | Base | required | ObservationStatus | 📍4.0.1 | FHIR Std.
Observation.category | Base | preferred | Observation Category Codes | 📍4.0.1 | FHIR Std.
Observation.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.value[x]:valueCodeableConcept.​coding:orpha | Base | required | Hereditary Predispositions (Orphacode) | 📦1.0.0 | This IG
Observation.value[x]:valueCodeableConcept.​coding:icd10 | Base | required | Hereditary Predispositions (ICD10) | 📦1.0.0 | This IG
Observation.dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std.
Observation.interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std.
Observation.bodySite | Base | example | SNOMED CT Body Structures | 📍4.0.1 | FHIR Std.
Observation.method | Base | example | Observation Methods | 📍4.0.1 | FHIR Std.
Observation.referenceRange.​type | Base | preferred | Observation Reference Range Meaning Codes | 📍4.0.1 | FHIR Std.
Observation.referenceRange.​appliesTo | Base | example | Observation Reference Range Applies To Codes | 📍4.0.1 | FHIR Std.
Observation.component.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component.​dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std.
Observation.component.​interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std.

#### Constraints

Id | Grade | Path(s) | Description | Expression
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()`
ele-1 | error | **ALL** elements | All FHIR elements must have a @value or children | `hasValue() or (children().count() > id.count())`
ext-1 | error | **ALL** extensions | Must have either extensions or value[x], not both | `extension.exists() != value.exists()`
obs-3 | error | Observation.referenceRange | Must have at least a low or a high or text | `low.exists() or high.exists() or text.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()`

This structure is derived from Observation

Summary

Mandatory: 3 elements
Must-Support: 2 elements
Prohibited: 1 element

Structures

This structure refers to these other structures:

- Patient: PCSP (http://hl7.eu/fhir/ig/pcsp/StructureDefinition/Patient-eu-pcsp)

Slices

This structure defines the following Slices:

- The element 1 is sliced based on the value of Observation.value[x]
- The element 1 is sliced based on the value of Observation.value[x].coding

Key Elements View

Name | Flags | Card. | Type | Description & Constraints Filter: Bindings Constraints Obligations
--- | --- | --- | --- | ---
Observation | C | 0..* | Observation | Measurements and simple assertions Constraints: obs-6, obs-7
implicitRules | ?!Σ | 0..1 | uri | A set of rules under which this content was created
modifierExtension | ?! | 0..* | Extension | Extensions that cannot be ignored
status | ?!Σ | 1..1 | code | registered | preliminary | final | amended + Binding: ObservationStatus (required): Codes providing the status of an observation.
code | Σ | 1..1 | CodeableConcept | Type of observation (code / type) 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://snomed.info/sct
version |  | 0..1 | string | Version of the system - if relevant
code |  | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 47708004
display |  | 1..1 | string | Representation defined by the system Fixed Value: Genetic predisposition
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 | 1..1 | Reference(Patient: PCSP) | Who and/or what the observation is about
Slices for value[x] | Σ C | 1..1 | CodeableConcept | Actual result Slice: Unordered, Closed by type:$this
value[x]:valueCodeableConcept | Σ C | 1..1 | CodeableConcept | Actual result
Slices for coding | Σ | 0..* | Coding | Code defined by a terminology system Slice: Unordered, Open by pattern:$this
coding:orpha | S Σ | 0..1 | Coding | Code defined by a terminology system Binding: Hereditary Predispositions (Orphacode) (required)
coding:icd10 | S Σ | 0..1 | Coding | Code defined by a terminology system Binding: Hereditary Predispositions (ICD10) (required)
Documentation for this format

#### Terminology Bindings

Path | Status | Usage | ValueSet | Version | Source
Observation.status | Base | required | ObservationStatus | 📍4.0.1 | FHIR Std.
Observation.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.value[x]:valueCodeableConcept.​coding:orpha | Base | required | Hereditary Predispositions (Orphacode) | 📦1.0.0 | This IG
Observation.value[x]:valueCodeableConcept.​coding:icd10 | Base | required | Hereditary Predispositions (ICD10) | 📦1.0.0 | This IG
Observation.component.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.

#### Constraints

Id | Grade | Path(s) | Description | Expression
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()`
ele-1 | error | **ALL** elements | All FHIR elements must have a @value or children | `hasValue() or (children().count() > id.count())`
ext-1 | error | **ALL** extensions | Must have either extensions or value[x], not both | `extension.exists() != value.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()`

Differential View

This structure is derived from Observation

Name | Flags | Card. | Type | Description & Constraints Filter: Bindings Constraints Obligations
--- | --- | --- | --- | ---
Observation |  |  | Observation |
code |  | 1..1 | CodeableConcept | Type of observation (code / type) 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://snomed.info/sct
code |  | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 47708004
display |  | 1..1 | string | Representation defined by the system Fixed Value: Genetic predisposition
subject |  | 1..1 | Reference(Patient: PCSP) | Who and/or what the observation is about
Slices for value[x] |  | 1..1 | CodeableConcept | Actual result Slice: Unordered, Open by type:$this
value[x]:valueCodeableConcept |  | 1..1 | CodeableConcept | Actual result
Slices for coding |  | 0..* | Coding | Code defined by a terminology system Slice: Unordered, Open by pattern:$this
coding:orpha | S | 0..1 | Coding | Code defined by a terminology system Binding: Hereditary Predispositions (Orphacode) (required)
coding:icd10 | S | 0..1 | Coding | Code defined by a terminology system Binding: Hereditary Predispositions (ICD10) (required)
component |  | 0..0 |  |
Documentation for this format

#### Terminology Bindings (Differential)

Path | Status | Usage | ValueSet | Version | Source
Observation.value[x]:valueCodeableConcept.​coding:orpha | Base | required | Hereditary Predispositions (Orphacode) | 📦1.0.0 | This IG
Observation.value[x]:valueCodeableConcept.​coding:icd10 | Base | required | Hereditary Predispositions (ICD10) | 📦1.0.0 | This IG

Snapshot View

Name | Flags | Card. | Type | Description & Constraints Filter: Bindings Constraints Obligations
--- | --- | --- | --- | ---
Observation | C | 0..* | Observation | Measurements and simple assertions Constraints: obs-6, obs-7
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): A human language.
Additional Bindings | Purpose
AllLanguages | Max Binding
text |  | 0..1 | Narrative | Text summary of the resource, for human interpretation This profile does not constrain the narrative in regard to content, language, or traceability to data elements
contained |  | 0..* | Resource | Contained, inline Resources
extension |  | 0..* | Extension | Additional content defined by implementations
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.
category |  | 0..* | CodeableConcept | Classification of type of observation Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.
code | Σ | 1..1 | CodeableConcept | Type of observation (code / type) 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://snomed.info/sct
version |  | 0..1 | string | Version of the system - if relevant
code |  | 1..1 | code | Symbol in syntax defined by the system Fixed Value: 47708004
display |  | 1..1 | string | Representation defined by the system Fixed Value: Genetic predisposition
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 | 1..1 | Reference(Patient: PCSP) | 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
Slices for value[x] | Σ C | 1..1 | CodeableConcept | Actual result Slice: Unordered, Closed by type:$this
value[x]:valueCodeableConcept | Σ C | 1..1 | CodeableConcept | Actual result
id |  | 0..1 | string | Unique id for inter-element referencing
extension |  | 0..* | Extension | Additional content defined by implementations Slice: Unordered, Open by value:url
Slices for coding | Σ | 0..* | Coding | Code defined by a terminology system Slice: Unordered, Open by pattern:$this
coding:orpha | S Σ | 0..1 | Coding | Code defined by a terminology system Binding: Hereditary Predispositions (Orphacode) (required)
coding:icd10 | S Σ | 0..1 | Coding | Code defined by a terminology system Binding: Hereditary Predispositions (ICD10) (required)
text | Σ | 0..1 | string | Plain text representation of the concept
dataAbsentReason | C | 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..* | Annotation | Comments about the observation
bodySite |  | 0..1 | CodeableConcept | Observed body part Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality.
method |  | 0..1 | CodeableConcept | How it was done Binding: ObservationMethods (example): Methods for simple observations.
specimen |  | 0..1 | Reference(Specimen) | Specimen used for this observation
device |  | 0..1 | Reference(Device | DeviceMetric) | (Measurement) Device
referenceRange | C | 0..* | BackboneElement | Provides guide for interpretation Constraints: obs-3
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 | C | 0..1 | SimpleQuantity(4.0.1) | Low Range, if relevant
high | C | 0..1 | SimpleQuantity(4.0.1) | 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
derivedFrom | Σ | 0..* | Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence) | Related measurements the observation is made from
Documentation for this format

#### Terminology Bindings

Path | Status | Usage | ValueSet | Version | Source
Observation.language | Base | preferred | Common Languages | 📍4.0.1 | FHIR Std.
Observation.status | Base | required | ObservationStatus | 📍4.0.1 | FHIR Std.
Observation.category | Base | preferred | Observation Category Codes | 📍4.0.1 | FHIR Std.
Observation.code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.value[x]:valueCodeableConcept.​coding:orpha | Base | required | Hereditary Predispositions (Orphacode) | 📦1.0.0 | This IG
Observation.value[x]:valueCodeableConcept.​coding:icd10 | Base | required | Hereditary Predispositions (ICD10) | 📦1.0.0 | This IG
Observation.dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std.
Observation.interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std.
Observation.bodySite | Base | example | SNOMED CT Body Structures | 📍4.0.1 | FHIR Std.
Observation.method | Base | example | Observation Methods | 📍4.0.1 | FHIR Std.
Observation.referenceRange.​type | Base | preferred | Observation Reference Range Meaning Codes | 📍4.0.1 | FHIR Std.
Observation.referenceRange.​appliesTo | Base | example | Observation Reference Range Applies To Codes | 📍4.0.1 | FHIR Std.
Observation.component.​code | Base | example | LOINC Codes | 📍4.0.1 | FHIR Std.
Observation.component.​dataAbsentReason | Base | extensible | DataAbsentReason | 📍4.0.1 | FHIR Std.
Observation.component.​interpretation | Base | extensible | Observation Interpretation Codes | 📍4.0.1 | FHIR Std.

#### Constraints

Id | Grade | Path(s) | Description | Expression
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()`
ele-1 | error | **ALL** elements | All FHIR elements must have a @value or children | `hasValue() or (children().count() > id.count())`
ext-1 | error | **ALL** extensions | Must have either extensions or value[x], not both | `extension.exists() != value.exists()`
obs-3 | error | Observation.referenceRange | Must have at least a low or a high or text | `low.exists() or high.exists() or text.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()`

This structure is derived from Observation

Summary

Mandatory: 3 elements
Must-Support: 2 elements
Prohibited: 1 element

Structures

This structure refers to these other structures:

- Patient: PCSP (http://hl7.eu/fhir/ig/pcsp/StructureDefinition/Patient-eu-pcsp)

Slices

This structure defines the following Slices:

- The element 1 is sliced based on the value of Observation.value[x]
- The element 1 is sliced based on the value of Observation.value[x].coding

Other representations of profile: CSV, Excel, Schematron