Introduction

In the phenopacket-schema, an Individual can have zero to many Diseases. The disease is a diagnosis, i.e., an inference or hypothesis about the cause underlying the observed phenotypic abnormalities. Some use cases of the phenopacket-schema involve genomics diagnostics for rare disease. In this case, a patient may receive a general diagnosis such as inherited retinal dystrophy (MONDO:0019118), and this would be the term that is entered in the Disease field of the phenopacket. In this example, analysis of the phenotypic abnormalities and the variants in whole-genome sequencing leads to the diagnosis of cone-rod dystrophy 16 (MONDO:0013786). In this case, we would use the Ontology term MONDO:0013786 to denote the diagnosis in the Interpretation TODO – ADD LINK. In other cases, we may know the etiological (molecular) or other precise diagnosis at the time the Phenopacket is generated, and the specific term would be used here.

Thus, the Disease element can be used to model disease diagnoses at different levels of granularity depending on the preciseness of the clinical diagnosis.

The FHIR Condition and the GA4GH phenopacket-schema Disease.

The GA4GH Disease element can be coded using the native FHIR Condition element. The following explains how this should be done.

1. In the GA4GH phenopacket, the term element is an OntologyClass that represents the disease diagnosis. This corresponds to the code element of Condition.

2. In the GA4GH phenopacket, excluded is a boolean that is false by default. If set true, the meaning is that the disease indicated by the term element was explicitly excluded by clinical examination. The clinicalStatus element of Condition uses a Preferred value set for the codes (active, relapse, remission, resolved) but it is valid to use other codes here. To represent the fact that a disease has been excluded, the SNOMED code 315215002, Disorder excluded (situation), or a comparable code should be used.

3. In the GA4GH phenopacket, onset is a TimeElement that represents the time or age of onset of the disease. This corresponds to onset in Condition.

4. In the GA4GH phenopacket, resolution is a TimeElement that represents the time or age of resolution or abatement of the disease. This corresponds to abatement in Condition.

5. In the GA4GH phenopacket, disease_stage is a list of OntologyClass that represent the disease stage. For instance, there are four stages of heart failure (A,B,C,D) ranging from high risk of developing heart failure to advanced heart failure. The FHIR Condition element represents the same information using an optional, single code. Software for transforming FHIR to GA4GH phenopackets may transform single composite codes into a list of codes if appropriate, but that is outside the scope of this IG.

6. In the GA4GH phenopacket, clinical_tnm_finding is a list of OntologyClass that represent TNM findings score the progression of cancer with respect to the originating tumor (T), spread to lymph nodes (N), and presence of metastases (M). Users should consider the mCODE FHIR IG for representing cancer patients rather than this IG; both can be transformed into a GA4GH phenopacket. Therefore, we do not recommended modelling this aspect of the GA4GH phenopacket using this IG.

7. In the GA4GH phenopacket, primary_site is an OntologyClass that represents the primary site of disease. This corresponds to bodySite in Condition.

8. In the GA4GH phenopacket, laterality is an OntologyClass that represents the laterality (left or right) of the primary site of sites (if applicable). There is not element in Condition that explicitly represents laterality. We recommend that if this is an important data element, a code be used that contains a reference to laterality, e.g., SNOMED 44029006, Left lung structure (body structure). Software for transforming FHIR to GA4GH phenopackets may infer the appropriate laterality term for right or left if needed.

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

This structure is derived from Condition

Name	Flags	Card.	Type	Description & Constraints
Condition		0..*	Condition	Detailed information about conditions, problems or diagnoses
Documentation for this format

Name	Flags	Card.	Type	Description & Constraints
Condition	C	0..*	Condition	Detailed information about conditions, problems or diagnoses con-3: Condition.clinicalStatus SHALL be present if verificationStatus is not entered-in-error and category is problem-list-item con-4: If condition is abated, then clinicalStatus must be either inactive, resolved, or remission con-5: Condition.clinicalStatus SHALL NOT be present if verification Status is entered-in-error
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.
subject	Σ	1..1	Reference(Patient | Group)	Who has the condition?
Documentation for this format

Terminology Bindings

Path	Conformance	ValueSet	URI
Condition.clinicalStatus	required	ConditionClinicalStatusCodes http://hl7.org/fhir/ValueSet/condition-clinical|4.0.1 from the FHIR Standard
Condition.verificationStatus	required	ConditionVerificationStatus http://hl7.org/fhir/ValueSet/condition-ver-status|4.0.1 from the FHIR Standard

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 con-3: Condition.clinicalStatus SHALL be present if verificationStatus is not entered-in-error and category is problem-list-item con-4: If condition is abated, then clinicalStatus must be either inactive, resolved, or remission con-5: Condition.clinicalStatus SHALL NOT be present if verification Status is entered-in-error
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
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: Condition/Problem/DiagnosisCodes (example): Identification of the condition or diagnosis.
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 con-1: Stage SHALL have summary or assessment
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 con-2: evidence SHALL have code or details
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	URI
Condition.language	preferred	CommonLanguages Additional Bindings Purpose AllLanguages Max Binding http://hl7.org/fhir/ValueSet/languages from the FHIR Standard
Condition.clinicalStatus	required	ConditionClinicalStatusCodes http://hl7.org/fhir/ValueSet/condition-clinical|4.0.1 from the FHIR Standard
Condition.verificationStatus	required	ConditionVerificationStatus http://hl7.org/fhir/ValueSet/condition-ver-status|4.0.1 from the FHIR Standard
Condition.category	extensible	ConditionCategoryCodes http://hl7.org/fhir/ValueSet/condition-category from the FHIR Standard
Condition.severity	preferred	Condition/DiagnosisSeverity http://hl7.org/fhir/ValueSet/condition-severity from the FHIR Standard
Condition.code	example	Condition/Problem/DiagnosisCodes http://hl7.org/fhir/ValueSet/condition-code from the FHIR Standard
Condition.bodySite	example	SNOMEDCTBodyStructures http://hl7.org/fhir/ValueSet/body-site from the FHIR Standard
Condition.stage.summary	example	ConditionStage http://hl7.org/fhir/ValueSet/condition-stage from the FHIR Standard
Condition.stage.type	example	ConditionStageType http://hl7.org/fhir/ValueSet/condition-stage-type from the FHIR Standard
Condition.evidence.code	example	ManifestationAndSymptomCodes http://hl7.org/fhir/ValueSet/manifestation-or-symptom from the FHIR Standard

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()
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()

Differential View

This structure is derived from Condition

Name	Flags	Card.	Type	Description & Constraints
Condition		0..*	Condition	Detailed information about conditions, problems or diagnoses
Documentation for this format

Key Elements View

Name	Flags	Card.	Type	Description & Constraints
Condition	C	0..*	Condition	Detailed information about conditions, problems or diagnoses con-3: Condition.clinicalStatus SHALL be present if verificationStatus is not entered-in-error and category is problem-list-item con-4: If condition is abated, then clinicalStatus must be either inactive, resolved, or remission con-5: Condition.clinicalStatus SHALL NOT be present if verification Status is entered-in-error
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.
subject	Σ	1..1	Reference(Patient | Group)	Who has the condition?
Documentation for this format

Terminology Bindings

Path	Conformance	ValueSet	URI
Condition.clinicalStatus	required	ConditionClinicalStatusCodes http://hl7.org/fhir/ValueSet/condition-clinical|4.0.1 from the FHIR Standard
Condition.verificationStatus	required	ConditionVerificationStatus http://hl7.org/fhir/ValueSet/condition-ver-status|4.0.1 from the FHIR Standard

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 con-3: Condition.clinicalStatus SHALL be present if verificationStatus is not entered-in-error and category is problem-list-item con-4: If condition is abated, then clinicalStatus must be either inactive, resolved, or remission con-5: Condition.clinicalStatus SHALL NOT be present if verification Status is entered-in-error
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
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: Condition/Problem/DiagnosisCodes (example): Identification of the condition or diagnosis.
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 con-1: Stage SHALL have summary or assessment
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 con-2: evidence SHALL have code or details
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	URI
Condition.language	preferred	CommonLanguages Additional Bindings Purpose AllLanguages Max Binding http://hl7.org/fhir/ValueSet/languages from the FHIR Standard
Condition.clinicalStatus	required	ConditionClinicalStatusCodes http://hl7.org/fhir/ValueSet/condition-clinical|4.0.1 from the FHIR Standard
Condition.verificationStatus	required	ConditionVerificationStatus http://hl7.org/fhir/ValueSet/condition-ver-status|4.0.1 from the FHIR Standard
Condition.category	extensible	ConditionCategoryCodes http://hl7.org/fhir/ValueSet/condition-category from the FHIR Standard
Condition.severity	preferred	Condition/DiagnosisSeverity http://hl7.org/fhir/ValueSet/condition-severity from the FHIR Standard
Condition.code	example	Condition/Problem/DiagnosisCodes http://hl7.org/fhir/ValueSet/condition-code from the FHIR Standard
Condition.bodySite	example	SNOMEDCTBodyStructures http://hl7.org/fhir/ValueSet/body-site from the FHIR Standard
Condition.stage.summary	example	ConditionStage http://hl7.org/fhir/ValueSet/condition-stage from the FHIR Standard
Condition.stage.type	example	ConditionStageType http://hl7.org/fhir/ValueSet/condition-stage-type from the FHIR Standard
Condition.evidence.code	example	ManifestationAndSymptomCodes http://hl7.org/fhir/ValueSet/manifestation-or-symptom from the FHIR Standard

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()
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()

This structure is derived from Condition

Summary