PanCareSurPass Project HL7 FHIR Implementation Guide
0.1.0 - trial-use 150

This page is part of the PanCareSurPass Project HL7 FHIR Implementation Guide (v0.1.0: QA Preview) based on FHIR R4. This is the current published version. For a full list of available versions, 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: 0.1.0
Active as of 2023-01-26 Computable Name: ObservationHereditaryPredispositionPcsp

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

Usage:

Formal Views of Profile Content

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

This structure is derived from Observation

NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation 0..*ObservationMeasurements and simple assertions
... code 1..1CodeableConceptType of observation (code / type)
Required Pattern: At least the following
.... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
..... system1..1uriIdentity of the terminology system
Fixed Value: http://snomed.info/sct
..... code1..1codeSymbol in syntax defined by the system
Fixed Value: 47708004
..... display1..1stringRepresentation defined by the system
Fixed Value: Genetic predisposition
... subject 1..1Reference(Patient: PCSP)Who and/or what the observation is about
... value[x] 1..1CodeableConceptActual result
Slice: Unordered, Open by type:$this
.... Slices for coding 0..*CodingCode defined by a terminology system
Slice: Unordered, Open by pattern:$this
..... coding:orpha S0..1CodingCode defined by a terminology system
Binding: Hereditary Predispositions (Orphacode) (required)
..... coding:icd10 S0..1CodingCode defined by a terminology system
Binding: Hereditary Predispositions (ICD10) (required)
... component 0..0

doco Documentation for this format

Terminology Bindings (Differential)

PathConformanceValueSet
Observation.valueCodeableConcept.coding:orpharequiredOrphaHereditaryPredisposition
Observation.valueCodeableConcept.coding:icd10requiredICD10HereditaryPredisposition
NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation C0..*ObservationMeasurements and simple assertions
... implicitRules ?!Σ0..1uriA set of rules under which this content was created
... modifierExtension ?!0..*ExtensionExtensions that cannot be ignored
... status ?!Σ1..1coderegistered | preliminary | final | amended +
Binding: ObservationStatus (required): Codes providing the status of an observation.

.... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
..... system1..1uriIdentity of the terminology system
Fixed Value: http://snomed.info/sct
..... code1..1codeSymbol in syntax defined by the system
Fixed Value: 47708004
..... display1..1stringRepresentation defined by the system
Fixed Value: Genetic predisposition
... subject Σ1..1Reference(Patient: PCSP)Who and/or what the observation is about
... Slices for value[x] ΣC1..1CodeableConceptActual result
Slice: Unordered, Closed by type:$this
.... value[x]:valueCodeableConcept ΣC1..1CodeableConceptActual result
..... Slices for coding Σ0..*CodingCode defined by a terminology system
Slice: Unordered, Open by pattern:$this
...... coding:orpha SΣ0..1CodingCode defined by a terminology system
Binding: Hereditary Predispositions (Orphacode) (required)
...... coding:icd10 SΣ0..1CodingCode defined by a terminology system
Binding: Hereditary Predispositions (ICD10) (required)

doco Documentation for this format

Terminology Bindings

PathConformanceValueSet / Code
Observation.statusrequiredObservationStatus
Observation.codeexamplePattern: SNOMED CT code 47708004("Genetic predisposition")
Observation.value[x]:valueCodeableConcept.coding:orpharequiredOrphaHereditaryPredisposition
Observation.value[x]:valueCodeableConcept.coding:icd10requiredICD10HereditaryPredisposition
Observation.component.codeexampleLOINCCodes (a valid code from LOINC)
NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation C0..*ObservationMeasurements and simple assertions
... id Σ0..1idLogical id of this artifact
... meta Σ0..1MetaMetadata about the resource
... implicitRules ?!Σ0..1uriA set of rules under which this content was created
... language 0..1codeLanguage of the resource content
Binding: CommonLanguages (preferred): A human language.

Additional BindingsPurpose
AllLanguagesMax Binding
... text 0..1NarrativeText summary of the resource, for human interpretation
... contained 0..*ResourceContained, inline Resources
... extension 0..*ExtensionAdditional content defined by implementations
... modifierExtension ?!0..*ExtensionExtensions that cannot be ignored
... identifier Σ0..*IdentifierBusiness Identifier for observation
... basedOn Σ0..*Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest)Fulfills plan, proposal or order
... partOf Σ0..*Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy)Part of referenced event
... status ?!Σ1..1coderegistered | preliminary | final | amended +
Binding: ObservationStatus (required): Codes providing the status of an observation.

... category 0..*CodeableConceptClassification of type of observation
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.


... code Σ1..1CodeableConceptType of observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
.... id0..1stringUnique id for inter-element referencing
.... extension0..*ExtensionAdditional content defined by implementations
.... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
..... id0..1stringUnique id for inter-element referencing
..... extension0..*ExtensionAdditional content defined by implementations
..... system1..1uriIdentity of the terminology system
Fixed Value: http://snomed.info/sct
..... version0..1stringVersion of the system - if relevant
..... code1..1codeSymbol in syntax defined by the system
Fixed Value: 47708004
..... display1..1stringRepresentation defined by the system
Fixed Value: Genetic predisposition
..... userSelected0..1booleanIf this coding was chosen directly by the user
.... text0..1stringPlain text representation of the concept
... subject Σ1..1Reference(Patient: PCSP)Who and/or what the observation is about
... focus ΣTU0..*Reference(Resource)What the observation is about, when it is not about the subject of record
... encounter Σ0..1Reference(Encounter)Healthcare event during which this observation is made
... effective[x] Σ0..1Clinically relevant time/time-period for observation
.... effectiveDateTimedateTime
.... effectivePeriodPeriod
.... effectiveTimingTiming
.... effectiveInstantinstant
... issued Σ0..1instantDate/Time this version was made available
... performer Σ0..*Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson)Who is responsible for the observation
... Slices for value[x] ΣC1..1CodeableConceptActual result
Slice: Unordered, Closed by type:$this
.... value[x]:valueCodeableConcept ΣC1..1CodeableConceptActual result
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
Slice: Unordered, Open by value:url
..... Slices for coding Σ0..*CodingCode defined by a terminology system
Slice: Unordered, Open by pattern:$this
...... coding:orpha SΣ0..1CodingCode defined by a terminology system
Binding: Hereditary Predispositions (Orphacode) (required)
...... coding:icd10 SΣ0..1CodingCode defined by a terminology system
Binding: Hereditary Predispositions (ICD10) (required)
..... text Σ0..1stringPlain text representation of the concept
... dataAbsentReason C0..1CodeableConceptWhy the result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

... interpretation 0..*CodeableConceptHigh, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.


... note 0..*AnnotationComments about the observation
... bodySite 0..1CodeableConceptObserved body part
Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality.

... method 0..1CodeableConceptHow it was done
Binding: ObservationMethods (example): Methods for simple observations.

... specimen 0..1Reference(Specimen)Specimen used for this observation
... device 0..1Reference(Device | DeviceMetric)(Measurement) Device
... referenceRange C0..*BackboneElementProvides guide for interpretation
.... id 0..1stringUnique id for inter-element referencing
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
.... low C0..1SimpleQuantityLow Range, if relevant
.... high C0..1SimpleQuantityHigh Range, if relevant
.... type 0..1CodeableConceptReference range qualifier
Binding: ObservationReferenceRangeMeaningCodes (preferred): Code for the meaning of a reference range.

.... appliesTo 0..*CodeableConceptReference range population
Binding: ObservationReferenceRangeAppliesToCodes (example): Codes identifying the population the reference range applies to.


.... age 0..1RangeApplicable age range, if relevant
.... text 0..1stringText based reference range in an observation
... hasMember Σ0..*Reference(Observation | QuestionnaireResponse | MolecularSequence)Related resource that belongs to the Observation group
... derivedFrom Σ0..*Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence)Related measurements the observation is made from

doco Documentation for this format

Terminology Bindings

PathConformanceValueSet / Code
Observation.languagepreferredCommonLanguages
Additional Bindings Purpose
AllLanguages Max Binding
Observation.statusrequiredObservationStatus
Observation.categorypreferredObservationCategoryCodes
Observation.codeexamplePattern: SNOMED CT code 47708004("Genetic predisposition")
Observation.value[x]:valueCodeableConcept.coding:orpharequiredOrphaHereditaryPredisposition
Observation.value[x]:valueCodeableConcept.coding:icd10requiredICD10HereditaryPredisposition
Observation.dataAbsentReasonextensibleDataAbsentReason
Observation.interpretationextensibleObservationInterpretationCodes
Observation.bodySiteexampleSNOMEDCTBodyStructures
Observation.methodexampleObservationMethods
Observation.referenceRange.typepreferredObservationReferenceRangeMeaningCodes
Observation.referenceRange.appliesToexampleObservationReferenceRangeAppliesToCodes
Observation.component.codeexampleLOINCCodes (a valid code from LOINC)
Observation.component.dataAbsentReasonextensibleDataAbsentReason
Observation.component.interpretationextensibleObservationInterpretationCodes

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:

Slices

This structure defines the following Slices:

  • The element Observation.value[x] is sliced based on the value of type:$this
  • The element Observation.valueCodeableConcept.coding is sliced based on the value of pattern:$this

Differential View

This structure is derived from Observation

NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation 0..*ObservationMeasurements and simple assertions
... code 1..1CodeableConceptType of observation (code / type)
Required Pattern: At least the following
.... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
..... system1..1uriIdentity of the terminology system
Fixed Value: http://snomed.info/sct
..... code1..1codeSymbol in syntax defined by the system
Fixed Value: 47708004
..... display1..1stringRepresentation defined by the system
Fixed Value: Genetic predisposition
... subject 1..1Reference(Patient: PCSP)Who and/or what the observation is about
... value[x] 1..1CodeableConceptActual result
Slice: Unordered, Open by type:$this
.... Slices for coding 0..*CodingCode defined by a terminology system
Slice: Unordered, Open by pattern:$this
..... coding:orpha S0..1CodingCode defined by a terminology system
Binding: Hereditary Predispositions (Orphacode) (required)
..... coding:icd10 S0..1CodingCode defined by a terminology system
Binding: Hereditary Predispositions (ICD10) (required)
... component 0..0

doco Documentation for this format

Terminology Bindings (Differential)

PathConformanceValueSet
Observation.valueCodeableConcept.coding:orpharequiredOrphaHereditaryPredisposition
Observation.valueCodeableConcept.coding:icd10requiredICD10HereditaryPredisposition

Key Elements View

NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation C0..*ObservationMeasurements and simple assertions
... implicitRules ?!Σ0..1uriA set of rules under which this content was created
... modifierExtension ?!0..*ExtensionExtensions that cannot be ignored
... status ?!Σ1..1coderegistered | preliminary | final | amended +
Binding: ObservationStatus (required): Codes providing the status of an observation.

.... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
..... system1..1uriIdentity of the terminology system
Fixed Value: http://snomed.info/sct
..... code1..1codeSymbol in syntax defined by the system
Fixed Value: 47708004
..... display1..1stringRepresentation defined by the system
Fixed Value: Genetic predisposition
... subject Σ1..1Reference(Patient: PCSP)Who and/or what the observation is about
... Slices for value[x] ΣC1..1CodeableConceptActual result
Slice: Unordered, Closed by type:$this
.... value[x]:valueCodeableConcept ΣC1..1CodeableConceptActual result
..... Slices for coding Σ0..*CodingCode defined by a terminology system
Slice: Unordered, Open by pattern:$this
...... coding:orpha SΣ0..1CodingCode defined by a terminology system
Binding: Hereditary Predispositions (Orphacode) (required)
...... coding:icd10 SΣ0..1CodingCode defined by a terminology system
Binding: Hereditary Predispositions (ICD10) (required)

doco Documentation for this format

Terminology Bindings

PathConformanceValueSet / Code
Observation.statusrequiredObservationStatus
Observation.codeexamplePattern: SNOMED CT code 47708004("Genetic predisposition")
Observation.value[x]:valueCodeableConcept.coding:orpharequiredOrphaHereditaryPredisposition
Observation.value[x]:valueCodeableConcept.coding:icd10requiredICD10HereditaryPredisposition
Observation.component.codeexampleLOINCCodes (a valid code from LOINC)

Snapshot View

NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation C0..*ObservationMeasurements and simple assertions
... id Σ0..1idLogical id of this artifact
... meta Σ0..1MetaMetadata about the resource
... implicitRules ?!Σ0..1uriA set of rules under which this content was created
... language 0..1codeLanguage of the resource content
Binding: CommonLanguages (preferred): A human language.

Additional BindingsPurpose
AllLanguagesMax Binding
... text 0..1NarrativeText summary of the resource, for human interpretation
... contained 0..*ResourceContained, inline Resources
... extension 0..*ExtensionAdditional content defined by implementations
... modifierExtension ?!0..*ExtensionExtensions that cannot be ignored
... identifier Σ0..*IdentifierBusiness Identifier for observation
... basedOn Σ0..*Reference(CarePlan | DeviceRequest | ImmunizationRecommendation | MedicationRequest | NutritionOrder | ServiceRequest)Fulfills plan, proposal or order
... partOf Σ0..*Reference(MedicationAdministration | MedicationDispense | MedicationStatement | Procedure | Immunization | ImagingStudy)Part of referenced event
... status ?!Σ1..1coderegistered | preliminary | final | amended +
Binding: ObservationStatus (required): Codes providing the status of an observation.

... category 0..*CodeableConceptClassification of type of observation
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.


... code Σ1..1CodeableConceptType of observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


Required Pattern: At least the following
.... id0..1stringUnique id for inter-element referencing
.... extension0..*ExtensionAdditional content defined by implementations
.... coding1..*CodingCode defined by a terminology system
Fixed Value: (complex)
..... id0..1stringUnique id for inter-element referencing
..... extension0..*ExtensionAdditional content defined by implementations
..... system1..1uriIdentity of the terminology system
Fixed Value: http://snomed.info/sct
..... version0..1stringVersion of the system - if relevant
..... code1..1codeSymbol in syntax defined by the system
Fixed Value: 47708004
..... display1..1stringRepresentation defined by the system
Fixed Value: Genetic predisposition
..... userSelected0..1booleanIf this coding was chosen directly by the user
.... text0..1stringPlain text representation of the concept
... subject Σ1..1Reference(Patient: PCSP)Who and/or what the observation is about
... focus ΣTU0..*Reference(Resource)What the observation is about, when it is not about the subject of record
... encounter Σ0..1Reference(Encounter)Healthcare event during which this observation is made
... effective[x] Σ0..1Clinically relevant time/time-period for observation
.... effectiveDateTimedateTime
.... effectivePeriodPeriod
.... effectiveTimingTiming
.... effectiveInstantinstant
... issued Σ0..1instantDate/Time this version was made available
... performer Σ0..*Reference(Practitioner | PractitionerRole | Organization | CareTeam | Patient | RelatedPerson)Who is responsible for the observation
... Slices for value[x] ΣC1..1CodeableConceptActual result
Slice: Unordered, Closed by type:$this
.... value[x]:valueCodeableConcept ΣC1..1CodeableConceptActual result
..... id 0..1stringUnique id for inter-element referencing
..... extension 0..*ExtensionAdditional content defined by implementations
Slice: Unordered, Open by value:url
..... Slices for coding Σ0..*CodingCode defined by a terminology system
Slice: Unordered, Open by pattern:$this
...... coding:orpha SΣ0..1CodingCode defined by a terminology system
Binding: Hereditary Predispositions (Orphacode) (required)
...... coding:icd10 SΣ0..1CodingCode defined by a terminology system
Binding: Hereditary Predispositions (ICD10) (required)
..... text Σ0..1stringPlain text representation of the concept
... dataAbsentReason C0..1CodeableConceptWhy the result is missing
Binding: DataAbsentReason (extensible): Codes specifying why the result (Observation.value[x]) is missing.

... interpretation 0..*CodeableConceptHigh, low, normal, etc.
Binding: ObservationInterpretationCodes (extensible): Codes identifying interpretations of observations.


... note 0..*AnnotationComments about the observation
... bodySite 0..1CodeableConceptObserved body part
Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality.

... method 0..1CodeableConceptHow it was done
Binding: ObservationMethods (example): Methods for simple observations.

... specimen 0..1Reference(Specimen)Specimen used for this observation
... device 0..1Reference(Device | DeviceMetric)(Measurement) Device
... referenceRange C0..*BackboneElementProvides guide for interpretation
.... id 0..1stringUnique id for inter-element referencing
.... extension 0..*ExtensionAdditional content defined by implementations
.... modifierExtension ?!Σ0..*ExtensionExtensions that cannot be ignored even if unrecognized
.... low C0..1SimpleQuantityLow Range, if relevant
.... high C0..1SimpleQuantityHigh Range, if relevant
.... type 0..1CodeableConceptReference range qualifier
Binding: ObservationReferenceRangeMeaningCodes (preferred): Code for the meaning of a reference range.

.... appliesTo 0..*CodeableConceptReference range population
Binding: ObservationReferenceRangeAppliesToCodes (example): Codes identifying the population the reference range applies to.


.... age 0..1RangeApplicable age range, if relevant
.... text 0..1stringText based reference range in an observation
... hasMember Σ0..*Reference(Observation | QuestionnaireResponse | MolecularSequence)Related resource that belongs to the Observation group
... derivedFrom Σ0..*Reference(DocumentReference | ImagingStudy | Media | QuestionnaireResponse | Observation | MolecularSequence)Related measurements the observation is made from

doco Documentation for this format

Terminology Bindings

PathConformanceValueSet / Code
Observation.languagepreferredCommonLanguages
Additional Bindings Purpose
AllLanguages Max Binding
Observation.statusrequiredObservationStatus
Observation.categorypreferredObservationCategoryCodes
Observation.codeexamplePattern: SNOMED CT code 47708004("Genetic predisposition")
Observation.value[x]:valueCodeableConcept.coding:orpharequiredOrphaHereditaryPredisposition
Observation.value[x]:valueCodeableConcept.coding:icd10requiredICD10HereditaryPredisposition
Observation.dataAbsentReasonextensibleDataAbsentReason
Observation.interpretationextensibleObservationInterpretationCodes
Observation.bodySiteexampleSNOMEDCTBodyStructures
Observation.methodexampleObservationMethods
Observation.referenceRange.typepreferredObservationReferenceRangeMeaningCodes
Observation.referenceRange.appliesToexampleObservationReferenceRangeAppliesToCodes
Observation.component.codeexampleLOINCCodes (a valid code from LOINC)
Observation.component.dataAbsentReasonextensibleDataAbsentReason
Observation.component.interpretationextensibleObservationInterpretationCodes

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:

Slices

This structure defines the following Slices:

  • The element Observation.value[x] is sliced based on the value of type:$this
  • The element Observation.valueCodeableConcept.coding is sliced based on the value of pattern:$this

 

Other representations of profile: CSV, Excel, Schematron