NCPI FHIR Implementation Guide - Local Development build (v0.2.0). See the Directory of published versions
Resource Profile: NCPI Disease
| Official URL: https://nih-ncpi.github.io/ncpi-fhir-ig/StructureDefinition/disease | Version: 0.2.0 | |||
| Draft as of 2022-12-09 | Computable Name: Disease | |||
Representation for a disease under study for a given research dataset.
The disease
The disease profile is used to represent the disease under study for which the patient was enrolled. This means that the patient must have a status (affected/unaffected) for the given disease.
Usage:
- Examples for this Resource Profile: Condition/disease-example-1
Formal Views of Profile Content
Description of Profiles, Differentials, Snapshots and how the different presentations work.
This structure is derived from Condition
| Name | Flags | Card. | Type | Description & Constraints |
|---|---|---|---|---|
  Condition | 0..* | Condition | Detailed information about conditions, problems or diagnoses | |
  code | 0..1 | CodeableConcept | Identification of the condition, problem or diagnosis Binding: Disease Codes (extensible) | |
| Documentation for this format | ||||
Terminology Bindings (Differential)
| Path | Conformance | ValueSet |
| Condition.code | extensible | DiseaseCodes |
| Name | Flags | Card. | Type | Description & Constraints |
|---|---|---|---|---|
| Condition | C | 0..* | Condition | Detailed information about conditions, problems or diagnoses |
  implicitRules | ?!Σ | 0..1 | uri | A set of rules under which this content was created |
 modifierExtension | ?! | 0..* | Extension | Extensions that cannot be ignored |
 clinicalStatus | ?!ΣC | 0..1 | CodeableConcept | active | recurrence | relapse | inactive | remission | resolved Binding: ConditionClinicalStatusCodes (required): The clinical status of the condition or diagnosis. |
| verificationStatus | ?!ΣC | 0..1 | CodeableConcept | unconfirmed | provisional | differential | confirmed | refuted | entered-in-error Binding: ConditionVerificationStatus (required): The verification status to support or decline the clinical status of the condition or diagnosis. |
| code | Σ | 0..1 | CodeableConcept | Identification of the condition, problem or diagnosis Binding: Disease Codes (extensible) |
 subject | Σ | 1..1 | Reference(Patient | Group) | Who has the condition? |
| Documentation for this format | ||||
Terminology Bindings
| Path | Conformance | ValueSet |
| Condition.clinicalStatus | required | ConditionClinicalStatusCodes |
| Condition.verificationStatus | required | ConditionVerificationStatus |
| Condition.code | extensible | DiseaseCodes |
Constraints
| Id | Grade | Path(s) | Details | Requirements |
| con-3 | best practice | Condition | Condition.clinicalStatus SHALL be present if verificationStatus is not entered-in-error and category is problem-list-item : clinicalStatus.exists() or verificationStatus.coding.where(system='http://terminology.hl7.org/CodeSystem/condition-ver-status' and code = 'entered-in-error').exists() or category.select($this='problem-list-item').empty() | |
| con-4 | error | Condition | If condition is abated, then clinicalStatus must be either inactive, resolved, or remission : abatement.empty() or clinicalStatus.coding.where(system='http://terminology.hl7.org/CodeSystem/condition-clinical' and (code='resolved' or code='remission' or code='inactive')).exists() | |
| con-5 | error | Condition | Condition.clinicalStatus SHALL NOT be present if verification Status is entered-in-error : verificationStatus.coding.where(system='http://terminology.hl7.org/CodeSystem/condition-ver-status' and code='entered-in-error').empty() or clinicalStatus.empty() | |
| dom-2 | error | Condition | If the resource is contained in another resource, it SHALL NOT contain nested Resources : contained.contained.empty() | |
| dom-3 | error | Condition | 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 | Condition | 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 | Condition | If a resource is contained in another resource, it SHALL NOT have a security label : contained.meta.security.empty() | |
| dom-6 | best practice | Condition | 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() |
| Name | Flags | Card. | Type | Description & Constraints | ||||
|---|---|---|---|---|---|---|---|---|
| Condition | C | 0..* | Condition | Detailed information about conditions, problems or diagnoses | ||||
| 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.
| |||||
| text | 0..1 | Narrative | Text summary of the resource, for human interpretation | |||||
| 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 | External Ids for this condition | ||||
| clinicalStatus | ?!ΣC | 0..1 | CodeableConcept | active | recurrence | relapse | inactive | remission | resolved Binding: ConditionClinicalStatusCodes (required): The clinical status of the condition or diagnosis. | ||||
| verificationStatus | ?!ΣC | 0..1 | CodeableConcept | unconfirmed | provisional | differential | confirmed | refuted | entered-in-error Binding: ConditionVerificationStatus (required): The verification status to support or decline the clinical status of the condition or diagnosis. | ||||
| category | 0..* | CodeableConcept | problem-list-item | encounter-diagnosis Binding: ConditionCategoryCodes (extensible): A category assigned to the condition. | |||||
| severity | 0..1 | CodeableConcept | Subjective severity of condition Binding: Condition/DiagnosisSeverity (preferred): A subjective assessment of the severity of the condition as evaluated by the clinician. | |||||
| code | Σ | 0..1 | CodeableConcept | Identification of the condition, problem or diagnosis Binding: Disease Codes (extensible) | ||||
| bodySite | Σ | 0..* | CodeableConcept | Anatomical location, if relevant Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality. | ||||
| subject | Σ | 1..1 | Reference(Patient | Group) | Who has the condition? | ||||
| encounter | Σ | 0..1 | Reference(Encounter) | Encounter created as part of | ||||
  onset[x] | Σ | 0..1 | Estimated or actual date, date-time, or age | |||||
 onsetDateTime | dateTime | |||||||
| onsetAge | Age | |||||||
| onsetPeriod | Period | |||||||
| onsetRange | Range | |||||||
| onsetString | string | |||||||
| abatement[x] | C | 0..1 | When in resolution/remission | |||||
| abatementDateTime | dateTime | |||||||
| abatementAge | Age | |||||||
| abatementPeriod | Period | |||||||
| abatementRange | Range | |||||||
| abatementString | string | |||||||
| recordedDate | Σ | 0..1 | dateTime | Date record was first recorded | ||||
| recorder | Σ | 0..1 | Reference(Practitioner | PractitionerRole | Patient | RelatedPerson) | Who recorded the condition | ||||
| asserter | Σ | 0..1 | Reference(Practitioner | PractitionerRole | Patient | RelatedPerson) | Person who asserts this condition | ||||
| stage | C | 0..* | BackboneElement | Stage/grade, usually assessed formally | ||||
| 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 | ||||
| summary | C | 0..1 | CodeableConcept | Simple summary (disease specific) Binding: ConditionStage (example): Codes describing condition stages (e.g. Cancer stages). | ||||
| assessment | C | 0..* | Reference(ClinicalImpression | DiagnosticReport | Observation) | Formal record of assessment | ||||
| type | 0..1 | CodeableConcept | Kind of staging Binding: ConditionStageType (example): Codes describing the kind of condition staging (e.g. clinical or pathological). | |||||
| evidence | C | 0..* | BackboneElement | Supporting evidence | ||||
| id | 0..1 | string | Unique id for inter-element referencing | |||||
| extension | 0..* | Extension | Additional content defined by implementations | |||||
| modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
| code | ΣC | 0..* | CodeableConcept | Manifestation/symptom Binding: ManifestationAndSymptomCodes (example): Codes that describe the manifestation or symptoms of a condition. | ||||
| detail | ΣC | 0..* | Reference(Resource) | Supporting information found elsewhere | ||||
| note | 0..* | Annotation | Additional information about the Condition | |||||
| Documentation for this format | ||||||||
Terminology Bindings
| Path | Conformance | ValueSet | ||||
| Condition.language | preferred | CommonLanguages
| ||||
| Condition.clinicalStatus | required | ConditionClinicalStatusCodes | ||||
| Condition.verificationStatus | required | ConditionVerificationStatus | ||||
| Condition.category | extensible | ConditionCategoryCodes | ||||
| Condition.severity | preferred | Condition/DiagnosisSeverity | ||||
| Condition.code | extensible | DiseaseCodes | ||||
| Condition.bodySite | example | SNOMEDCTBodyStructures | ||||
| Condition.stage.summary | example | ConditionStage | ||||
| Condition.stage.type | example | ConditionStageType | ||||
| Condition.evidence.code | example | ManifestationAndSymptomCodes |
Constraints
| Id | Grade | Path(s) | Details | Requirements |
| con-1 | error | Condition.stage | Stage SHALL have summary or assessment : summary.exists() or assessment.exists() | |
| con-2 | error | Condition.evidence | evidence SHALL have code or details : code.exists() or detail.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() |
This structure is derived from Condition
Differential View
This structure is derived from Condition
| Name | Flags | Card. | Type | Description & Constraints |
|---|---|---|---|---|
| Condition | 0..* | Condition | Detailed information about conditions, problems or diagnoses | |
| code | 0..1 | CodeableConcept | Identification of the condition, problem or diagnosis Binding: Disease Codes (extensible) | |
| Documentation for this format | ||||
Terminology Bindings (Differential)
| Path | Conformance | ValueSet |
| Condition.code | extensible | DiseaseCodes |
Key Elements View
| Name | Flags | Card. | Type | Description & Constraints |
|---|---|---|---|---|
| Condition | C | 0..* | Condition | Detailed information about conditions, problems or diagnoses |
| implicitRules | ?!Σ | 0..1 | uri | A set of rules under which this content was created |
| modifierExtension | ?! | 0..* | Extension | Extensions that cannot be ignored |
| clinicalStatus | ?!ΣC | 0..1 | CodeableConcept | active | recurrence | relapse | inactive | remission | resolved Binding: ConditionClinicalStatusCodes (required): The clinical status of the condition or diagnosis. |
| verificationStatus | ?!ΣC | 0..1 | CodeableConcept | unconfirmed | provisional | differential | confirmed | refuted | entered-in-error Binding: ConditionVerificationStatus (required): The verification status to support or decline the clinical status of the condition or diagnosis. |
| code | Σ | 0..1 | CodeableConcept | Identification of the condition, problem or diagnosis Binding: Disease Codes (extensible) |
| subject | Σ | 1..1 | Reference(Patient | Group) | Who has the condition? |
| Documentation for this format | ||||
Terminology Bindings
| Path | Conformance | ValueSet |
| Condition.clinicalStatus | required | ConditionClinicalStatusCodes |
| Condition.verificationStatus | required | ConditionVerificationStatus |
| Condition.code | extensible | DiseaseCodes |
Constraints
| Id | Grade | Path(s) | Details | Requirements |
| con-3 | best practice | Condition | Condition.clinicalStatus SHALL be present if verificationStatus is not entered-in-error and category is problem-list-item : clinicalStatus.exists() or verificationStatus.coding.where(system='http://terminology.hl7.org/CodeSystem/condition-ver-status' and code = 'entered-in-error').exists() or category.select($this='problem-list-item').empty() | |
| con-4 | error | Condition | If condition is abated, then clinicalStatus must be either inactive, resolved, or remission : abatement.empty() or clinicalStatus.coding.where(system='http://terminology.hl7.org/CodeSystem/condition-clinical' and (code='resolved' or code='remission' or code='inactive')).exists() | |
| con-5 | error | Condition | Condition.clinicalStatus SHALL NOT be present if verification Status is entered-in-error : verificationStatus.coding.where(system='http://terminology.hl7.org/CodeSystem/condition-ver-status' and code='entered-in-error').empty() or clinicalStatus.empty() | |
| dom-2 | error | Condition | If the resource is contained in another resource, it SHALL NOT contain nested Resources : contained.contained.empty() | |
| dom-3 | error | Condition | 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 | Condition | 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 | Condition | If a resource is contained in another resource, it SHALL NOT have a security label : contained.meta.security.empty() | |
| dom-6 | best practice | Condition | 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() |
Snapshot View
| Name | Flags | Card. | Type | Description & Constraints | ||||
|---|---|---|---|---|---|---|---|---|
| Condition | C | 0..* | Condition | Detailed information about conditions, problems or diagnoses | ||||
| 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.
| |||||
| text | 0..1 | Narrative | Text summary of the resource, for human interpretation | |||||
| 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 | External Ids for this condition | ||||
| clinicalStatus | ?!ΣC | 0..1 | CodeableConcept | active | recurrence | relapse | inactive | remission | resolved Binding: ConditionClinicalStatusCodes (required): The clinical status of the condition or diagnosis. | ||||
| verificationStatus | ?!ΣC | 0..1 | CodeableConcept | unconfirmed | provisional | differential | confirmed | refuted | entered-in-error Binding: ConditionVerificationStatus (required): The verification status to support or decline the clinical status of the condition or diagnosis. | ||||
| category | 0..* | CodeableConcept | problem-list-item | encounter-diagnosis Binding: ConditionCategoryCodes (extensible): A category assigned to the condition. | |||||
| severity | 0..1 | CodeableConcept | Subjective severity of condition Binding: Condition/DiagnosisSeverity (preferred): A subjective assessment of the severity of the condition as evaluated by the clinician. | |||||
| code | Σ | 0..1 | CodeableConcept | Identification of the condition, problem or diagnosis Binding: Disease Codes (extensible) | ||||
| bodySite | Σ | 0..* | CodeableConcept | Anatomical location, if relevant Binding: SNOMEDCTBodyStructures (example): Codes describing anatomical locations. May include laterality. | ||||
| subject | Σ | 1..1 | Reference(Patient | Group) | Who has the condition? | ||||
| encounter | Σ | 0..1 | Reference(Encounter) | Encounter created as part of | ||||
| onset[x] | Σ | 0..1 | Estimated or actual date, date-time, or age | |||||
| onsetDateTime | dateTime | |||||||
| onsetAge | Age | |||||||
| onsetPeriod | Period | |||||||
| onsetRange | Range | |||||||
| onsetString | string | |||||||
| abatement[x] | C | 0..1 | When in resolution/remission | |||||
| abatementDateTime | dateTime | |||||||
| abatementAge | Age | |||||||
| abatementPeriod | Period | |||||||
| abatementRange | Range | |||||||
| abatementString | string | |||||||
| recordedDate | Σ | 0..1 | dateTime | Date record was first recorded | ||||
| recorder | Σ | 0..1 | Reference(Practitioner | PractitionerRole | Patient | RelatedPerson) | Who recorded the condition | ||||
| asserter | Σ | 0..1 | Reference(Practitioner | PractitionerRole | Patient | RelatedPerson) | Person who asserts this condition | ||||
| stage | C | 0..* | BackboneElement | Stage/grade, usually assessed formally | ||||
| 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 | ||||
| summary | C | 0..1 | CodeableConcept | Simple summary (disease specific) Binding: ConditionStage (example): Codes describing condition stages (e.g. Cancer stages). | ||||
| assessment | C | 0..* | Reference(ClinicalImpression | DiagnosticReport | Observation) | Formal record of assessment | ||||
| type | 0..1 | CodeableConcept | Kind of staging Binding: ConditionStageType (example): Codes describing the kind of condition staging (e.g. clinical or pathological). | |||||
| evidence | C | 0..* | BackboneElement | Supporting evidence | ||||
| id | 0..1 | string | Unique id for inter-element referencing | |||||
| extension | 0..* | Extension | Additional content defined by implementations | |||||
| modifierExtension | ?!Σ | 0..* | Extension | Extensions that cannot be ignored even if unrecognized | ||||
| code | ΣC | 0..* | CodeableConcept | Manifestation/symptom Binding: ManifestationAndSymptomCodes (example): Codes that describe the manifestation or symptoms of a condition. | ||||
| detail | ΣC | 0..* | Reference(Resource) | Supporting information found elsewhere | ||||
| note | 0..* | Annotation | Additional information about the Condition | |||||
| Documentation for this format | ||||||||
Terminology Bindings
| Path | Conformance | ValueSet | ||||
| Condition.language | preferred | CommonLanguages
| ||||
| Condition.clinicalStatus | required | ConditionClinicalStatusCodes | ||||
| Condition.verificationStatus | required | ConditionVerificationStatus | ||||
| Condition.category | extensible | ConditionCategoryCodes | ||||
| Condition.severity | preferred | Condition/DiagnosisSeverity | ||||
| Condition.code | extensible | DiseaseCodes | ||||
| Condition.bodySite | example | SNOMEDCTBodyStructures | ||||
| Condition.stage.summary | example | ConditionStage | ||||
| Condition.stage.type | example | ConditionStageType | ||||
| Condition.evidence.code | example | ManifestationAndSymptomCodes |
Constraints
| Id | Grade | Path(s) | Details | Requirements |
| con-1 | error | Condition.stage | Stage SHALL have summary or assessment : summary.exists() or assessment.exists() | |
| con-2 | error | Condition.evidence | evidence SHALL have code or details : code.exists() or detail.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() |
This structure is derived from Condition
Other representations of profile: CSV, Excel, Schematron
Notes:
Disease Designation
Patients identified as affected or unaffected for a given disease will have a condition object linked to their patient record containing one or more Coding entries assigned to Condition.code. Condition.code.text will contain the textual description of the disease. The first Coding object present must be one of the disease codes
Affected Status
Affection status is mapped to the standard parameter, Condition.verificationStatus using the corresponding hl7 codes.
| Status | Verification Status |
|---|---|
| Affected | Confirmed |
| Unaffected | Refuted |
| Possibly Affected | Provisional |
recordedDate vs onset
Depending on the data available, data may be tagged with a date in either Condition.recordedDate or Condition.onset using the extension relativeDateTime where recordedDate is presumably the earliest date at which this disease was noted in the patient’s record. Onset would be specified only when the actual onset was established and recorded as such. The relative date targets the patient’s birth date.