NCPI FHIR Implementation Guide v2
0.1.0 - ci-build

NCPI FHIR Implementation Guide v2 - Local Development build (v0.1.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

Resource Profile: NCPI Conditon

Official URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/ncpi-condition Version: 0.1.0
Draft as of 2025-03-24 Computable Name: NcpiCondition

Information about a condition related to a research participant

Key Guidelines

The NCPI Condition profile is based on the standard resource type, Observation and is intended to represent a condition or phenotype associated with a participant in a research study.

Added Profile Restrictions

In order to ensure that our resources are interoperable across studies, we have employed a number of restrictions that should make consuming Patient resources more consistent.

  • participantID should be a globally unique identifier associated with the patient. This practice is intended to make constructing queries for the same patient compatible across different servers (such as QA vs PROD) but also to make the resource URLs more meaningful.

NCPI Condition requests codes for conditions and condition information where possible rather than the use of free text; However, providing free text is an option in the conditionText field of the profile.

NCPI FHIR Mappings

The following fields from the shared data model are to be mapped into the NCPI Condition as shown below:

Logical Model Property Cardinality NCPI FHIR Mapping Usage Guidance Notes
participant 1..1 subject The participant we are describing  
condition 0..* code.coding The condition, disease, phenotypic feature, etc that this participant may have.  
conditonText 1..1 code.text Detailed description / free text about this condition.  
ageAtAssertion 0..1 effectiveDateTime The date or age at which this condition is being asserted.  
assertion 1..1 valueCodeableConcept Does the participant have this condition?  
conditionType 0..1 Category Does this condition represent a specific "type" of condition, such as "Phenotypic Feature" vs "Disease" in a rare disease setting.  
ageAtOnset 0..1 component[ageAtOnset] The age of onset for this condition. Could be expressed with a term, an age, or an age range.  
ageAtResolution 0..1 component[ageAtResolution] The age at which this condition was resolved, abated, or cured. Should be left empty in cases of current active status. Could be expressed with a term, an age, or an age range.  
otherModifiers 0..* component[otherModifiers] Any additional modifiers for this condition, such as severity.  
stage 0..1 component[stage] Cancer staging information  
location 0..* bodySite Location information, such as site and/or laterality, of the condition. Multiple values should be interpreted cumulatively, so complex location information, such as "right lung" and "left kidney" may require multiple condition rows.  
locationQualifier 0..1 extension[codeableConcept] Any spatial/location qualifiers  
lateralityQualifier 0..1 extension[codeableConcept] Any laterality qualifiers  
assertionSource 0..1 method Where or how was this this assertion about the Participant recorded? This can support understanding the differences between surveys, automated EHR extraction, manual chart abstraction, etc.  
asserter 0..1 extension[codeableConcept] Who recorded this assertion about the Participant? This can support understanding the differences between self-report, doctor, trained research staff.  

Usage:

Formal Views of Profile Content

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

NameFlagsCard.TypeDescription & Constraintsdoco
.. Observation C 0..* Observation Measurements and simple assertions
dom-2: If the resource is contained in another resource, it SHALL NOT contain nested Resources
dom-3: 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
dom-4: If a resource is contained in another resource, it SHALL NOT have a meta.versionId or a meta.lastUpdated
dom-5: If a resource is contained in another resource, it SHALL NOT have a security label
dom-6: A resource should have narrative for robust management
obs-6: dataAbsentReason SHALL only be present if Observation.value[x] is not present
obs-7: If Observation.code is the same as an Observation.component.code then the value element associated with the code SHALL NOT be present
... implicitRules ?!Σ 0..1 uri A set of rules under which this content was created
ele-1: All FHIR elements must have a @value or children
... Slices for extension 0..* Extension Extension
Slice: Unordered, Open by value:url
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
.... extension:condition-location 0..1 code Any location qualifiers
URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/condition-location
Binding: Location Information (required)
ele-1: All FHIR elements must have a @value or children unless an empty Parameters resource
ext-1: Must have either extensions or value[x], not both
.... extension:condition-laterality 0..1 code Laterality information for the condition site
URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/condition-laterality
Binding: Laterality Information (required)
ele-1: All FHIR elements must have a @value or children unless an empty Parameters resource
ext-1: Must have either extensions or value[x], not both
.... extension:condition-asserter 0..1 CodeableConcept Who recorded this assertion about the Participant? This can support understanding the differences between self-report, doctor, trained research staff.
URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/condition-asserter
ele-1: All FHIR elements must have a @value or children unless an empty Parameters resource
ext-1: Must have either extensions or value[x], not both
... modifierExtension ?! 0..* Extension Extensions that cannot be ignored
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
... category 0..* CodeableConcept Does this condition represent a specific "type" of condition, such as "Phenotypic Feature" vs "Disease" in a rare disease setting.
Binding: ObservationCategoryCodes (preferred): Codes for high level observation categories.


ele-1: All FHIR elements must have a @value or children
... code Σ 1..1 CodeableConcept Type of observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


ele-1: All FHIR elements must have a @value or children
.... coding Σ 0..* Coding The condition, disease, phenotypic feature, etc that this participant may have.
ele-1: All FHIR elements must have a @value or children
.... text Σ 0..1 string Detailed description / free text about this condition.
ele-1: All FHIR elements must have a @value or children
... subject Σ 0..1 Reference(NCPI Participant) The participant we are describing
ele-1: All FHIR elements must have a @value or children
... effective[x] Σ 0..1 dateTime The date or age at which this condition is being asserted. Could be expressed with a term, an age, or an age range. (for ages use http://hl7.org/fhir/StructureDefinition/cqf-relativeDateTime)
ele-1: All FHIR elements must have a @value or children
... Slices for value[x] ΣC 0..1 Actual result
Slice: Unordered, Open by type:$this
ele-1: All FHIR elements must have a @value or children
.... valueQuantity Quantity
.... valueCodeableConcept CodeableConcept
.... valueString string
.... valueBoolean boolean
.... valueInteger integer
.... valueRange Range
.... valueRatio Ratio
.... valueSampledData SampledData
.... valueTime time
.... valueDateTime dateTime
.... valuePeriod Period
.... value[x]:valueCodeableConcept ΣC 0..1 CodeableConcept Does the participant have this condition?
Binding: Assertion of Condition Codes (required)
ele-1: All FHIR elements must have a @value or children
... bodySite 0..1 CodeableConcept Location information, such as site and/or laterality, of the condition. Multiple values should be interpreted cumulatively, so complex location information, such as "right lung" and "left kidney" may require multiple condition rows.
Binding: SNOMEDCTBodyStructures (example): SNOMED CT Body site concepts


ele-1: All FHIR elements must have a @value or children
... method 0..1 CodeableConcept Where or how was this this assertion about the Participant recorded? This can support understanding the differences between surveys, automated EHR extraction, manual chart abstraction, etc.
Binding: ObservationMethods (example): Methods for simple observations.


ele-1: All FHIR elements must have a @value or children
... Slices for component Σ 0..* BackboneElement Component results
Slice: Unordered, Open by value:code
ele-1: All FHIR elements must have a @value or children unless an empty Parameters resource
.... component:All Slices Content/Rules for all slices
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
..... code Σ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


ele-1: All FHIR elements must have a @value or children
.... component:ageAtOnset Σ 0..1 BackboneElement The age of onset for this condition. Could be expressed with a term, an age, or an age range.
ele-1: All FHIR elements must have a @value or children unless an empty Parameters resource
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
..... code Σ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


ele-1: All FHIR elements must have a @value or children
Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: ageAtOnset
..... value[x] Σ 0..1 Actual component result
ele-1: All FHIR elements must have a @value or children
...... valueQuantity Quantity
...... valueCodeableConcept CodeableConcept
...... valueRange Range
...... valueDateTime dateTime
.... component:ageAtResolution Σ 0..1 BackboneElement The age at which this condition was resolved, abated, or cured. Should be left empty in cases of current active status. Could be expressed with a term, an age, or an age range.
ele-1: All FHIR elements must have a @value or children unless an empty Parameters resource
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
..... code Σ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


ele-1: All FHIR elements must have a @value or children
Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: ageAtResolution
..... value[x] Σ 0..1 Actual component result
ele-1: All FHIR elements must have a @value or children
...... valueQuantity Quantity
...... valueCodeableConcept CodeableConcept
...... valueRange Range
...... valueDateTime dateTime
.... component:otherModifiers Σ 0..* BackboneElement Any additional modifiers for this condition, such as severity.
ele-1: All FHIR elements must have a @value or children unless an empty Parameters resource
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
..... code Σ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


ele-1: All FHIR elements must have a @value or children
Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: otherModifiers
..... value[x] Σ 0..1 CodeableConcept Actual component result
ele-1: All FHIR elements must have a @value or children
.... component:stage Σ 0..1 BackboneElement Cancer staging information
ele-1: All FHIR elements must have a @value or children unless an empty Parameters resource
..... modifierExtension ?!Σ 0..* Extension Extensions that cannot be ignored even if unrecognized
ele-1: All FHIR elements must have a @value or children
ext-1: Must have either extensions or value[x], not both
..... code Σ 1..1 CodeableConcept Type of component observation (code / type)
Binding: LOINCCodes (example): Codes identifying names of simple observations.


ele-1: All FHIR elements must have a @value or children
Required Pattern: At least the following
...... coding 1..* Coding Code defined by a terminology system
Fixed Value: (complex)
....... code 1..1 code Symbol in syntax defined by the system
Fixed Value: stage
..... value[x] Σ 0..1 CodeableConcept Actual component result
ele-1: All FHIR elements must have a @value or children

doco Documentation for this format

Terminology Bindings

PathConformanceValueSet / CodeURI
Observation.statusrequiredObservationStatus
http://hl7.org/fhir/ValueSet/observation-status|4.3.0
from the FHIR Standard
Observation.categorypreferredObservationCategoryCodes
http://hl7.org/fhir/ValueSet/observation-category
from the FHIR Standard
Observation.codeexampleLOINCCodes (a valid code from LOINC)
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.value[x]:valueCodeableConceptrequiredConditionAssertionVS (a valid code from Assertion of Condition Codes)
https://nih-ncpi.github.io/ncpi-fhir-ig-2/ValueSet/condition-assertion-vs
from this IG
Observation.bodySiteexampleSNOMEDCTBodyStructures
http://hl7.org/fhir/ValueSet/body-site
from the FHIR Standard
Observation.methodexampleObservationMethods
http://hl7.org/fhir/ValueSet/observation-methods
from the FHIR Standard
Observation.component.codeexampleLOINCCodes (a valid code from LOINC)
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:ageAtOnset.codeexamplePattern: ageAtOnset
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:ageAtResolution.codeexamplePattern: ageAtResolution
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:otherModifiers.codeexamplePattern: otherModifiers
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard
Observation.component:stage.codeexamplePattern: stage
http://hl7.org/fhir/ValueSet/observation-codes
from the FHIR Standard

Constraints

IdGradePath(s)DetailsRequirements
dom-2errorObservationIf the resource is contained in another resource, it SHALL NOT contain nested Resources
: contained.contained.empty()
dom-3errorObservationIf 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.exists() and ('#'+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(uri) = '#').exists()).not()).trace('unmatched', id).empty()
dom-4errorObservationIf 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-5errorObservationIf a resource is contained in another resource, it SHALL NOT have a security label
: contained.meta.security.empty()
dom-6best practiceObservationA resource should have narrative for robust management
: text.`div`.exists()
ele-1error**ALL** elementsAll FHIR elements must have a @value or children
: hasValue() or (children().count() > id.count())
ext-1error**ALL** extensionsMust have either extensions or value[x], not both
: extension.exists() != value.exists()
obs-6errorObservationdataAbsentReason SHALL only be present if Observation.value[x] is not present
: dataAbsentReason.empty() or value.empty()
obs-7errorObservationIf 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()