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

Logical Model: Shared Data Model for Condition

Official URL: https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/SharedDataModelCondition Version: 0.1.0
Draft as of 2024-11-25 Computable Name: CdmCondition

The Shared Data Model for Condition

NCPI Condition

Conditions / Phenotypes / Diseases

These entities describe phenotypes or diseases of Participants. The distinction is one of “record of asserted status” and “Details of positively asserted status”. We make these distinctions to support general use cases of “longitudinal, catch all records” and “curated summaries of features”. This distinction is focused on the interoperability utility over the “direct representation of reality”. There is overlap in these data; many assertions about status and onset might be coalesced into a single description of an affected status. In other studies, the “summary” may be derived from a single “assertion” and appear mostly duplicative.

This distinction is similar to those in OMOP and FHIR, though it does not map precisely. Critically in OMOP and FHIR, Condition_occurrence and Condition are ALWAYS a positive assertion (though they may be wrong). “Assertions of history of disease” are observations in OMOP, eg, ICD9CM V-codes like “Personal history of malignant neoplasm of breast” go in Observation.

We do not set a distinction in entities here about “Phenotypes” vs “Diseases” as often used in a rare disease setting (eg, in Phenopackets). There is utility in indicating the intent of the submitter where possible, but this is not represented as separate entities.

Condition Assertion

Condition Assertions are records of a present or absent condition status for a participant. They reflect support for ongoing longitudinal records, and enable the ability to make explicit whether a feature was recorded or not for a participant. The assertion may carry with it additional data, such as age of onset, but it’s not required. Condition Assertions may be contradictory over time- the goal is to represent faithfully what was reported by the study. Consumers of this data should expect to need to aggregate this longitudinal record or reconcile data captured at different granularity. For example, it’s common to capture broad negative categories (No Heart Conditions) but also specific positive assertions (Atrial Septal Defect).

Condition Summary

Condition Summaries are intended to present users / consumers with an integrated summary view of condition data. This is a “higher level” product that may not be available in all circumstances, but provides a convenient way for users to understand what conditions might affect participants.

Usage:

  • This Logical Model Profile is not used by any profiles in this Implementation Guide

Formal Views of Profile Content

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

This structure is derived from Base

NameFlagsCard.TypeDescription & Constraintsdoco
.. SharedDataModelCondition 0..* Base Shared Data Model for Condition
Instances of this logical model are not marked to be the target of a Reference
... participant 1..1 VSReference(5.1.0) The participant we are describing
... condition 0..* code The condition, disease, phenotypic feature, etc that this participant may have.
... conditonText 1..1 string Detailed description / free text about this condition.
... assertion 1..1 code Does the participant have this condition?
... conditionType 0..1 code Does this condition represent a specific "type" of condition, such as "Phenotypic Feature" vs "Disease" in a rare disease setting.
... ageAtOnset 0..1 code The age of onset for this condition. Could be expressed with a term, an age, or an age range.
... ageAtResolution 0..1 date 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..* code Any additional modifiers for this condition, such as severity.
... stage 0..1 date Cancer staging information
... location 0..* code 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 code Any spatial/location qualifiers
... lateralityQualifier 0..1 code Any laterality qualifiers
... assertionSource 0..1 code 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 code Who recorded this assertion about the Participant? This can support understanding the differences between self-report, doctor, trained research staff.

doco Documentation for this format
NameFlagsCard.TypeDescription & Constraintsdoco
.. SharedDataModelCondition 0..* Base Shared Data Model for Condition
Instances of this logical model are not marked to be the target of a Reference
... participant 1..1 VSReference(5.1.0) The participant we are describing
... condition 0..* code The condition, disease, phenotypic feature, etc that this participant may have.
... conditonText 1..1 string Detailed description / free text about this condition.
... assertion 1..1 code Does the participant have this condition?
... conditionType 0..1 code Does this condition represent a specific "type" of condition, such as "Phenotypic Feature" vs "Disease" in a rare disease setting.
... ageAtOnset 0..1 code The age of onset for this condition. Could be expressed with a term, an age, or an age range.
... ageAtResolution 0..1 date 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..* code Any additional modifiers for this condition, such as severity.
... stage 0..1 date Cancer staging information
... location 0..* code 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 code Any spatial/location qualifiers
... lateralityQualifier 0..1 code Any laterality qualifiers
... assertionSource 0..1 code 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 code Who recorded this assertion about the Participant? This can support understanding the differences between self-report, doctor, trained research staff.

doco Documentation for this format
NameFlagsCard.TypeDescription & Constraintsdoco
.. SharedDataModelCondition 0..* Base Shared Data Model for Condition
Instances of this logical model are not marked to be the target of a Reference
... participant 1..1 VSReference(5.1.0) The participant we are describing
... condition 0..* code The condition, disease, phenotypic feature, etc that this participant may have.
... conditonText 1..1 string Detailed description / free text about this condition.
... assertion 1..1 code Does the participant have this condition?
... conditionType 0..1 code Does this condition represent a specific "type" of condition, such as "Phenotypic Feature" vs "Disease" in a rare disease setting.
... ageAtOnset 0..1 code The age of onset for this condition. Could be expressed with a term, an age, or an age range.
... ageAtResolution 0..1 date 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..* code Any additional modifiers for this condition, such as severity.
... stage 0..1 date Cancer staging information
... location 0..* code 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 code Any spatial/location qualifiers
... lateralityQualifier 0..1 code Any laterality qualifiers
... assertionSource 0..1 code 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 code Who recorded this assertion about the Participant? This can support understanding the differences between self-report, doctor, trained research staff.

doco Documentation for this format

This structure is derived from Base

Summary

Mandatory: 0 element(3 nested mandatory elements)

Structures

This structure refers to these other structures:

Differential View

This structure is derived from Base

NameFlagsCard.TypeDescription & Constraintsdoco
.. SharedDataModelCondition 0..* Base Shared Data Model for Condition
Instances of this logical model are not marked to be the target of a Reference
... participant 1..1 VSReference(5.1.0) The participant we are describing
... condition 0..* code The condition, disease, phenotypic feature, etc that this participant may have.
... conditonText 1..1 string Detailed description / free text about this condition.
... assertion 1..1 code Does the participant have this condition?
... conditionType 0..1 code Does this condition represent a specific "type" of condition, such as "Phenotypic Feature" vs "Disease" in a rare disease setting.
... ageAtOnset 0..1 code The age of onset for this condition. Could be expressed with a term, an age, or an age range.
... ageAtResolution 0..1 date 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..* code Any additional modifiers for this condition, such as severity.
... stage 0..1 date Cancer staging information
... location 0..* code 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 code Any spatial/location qualifiers
... lateralityQualifier 0..1 code Any laterality qualifiers
... assertionSource 0..1 code 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 code Who recorded this assertion about the Participant? This can support understanding the differences between self-report, doctor, trained research staff.

doco Documentation for this format

Key Elements View

NameFlagsCard.TypeDescription & Constraintsdoco
.. SharedDataModelCondition 0..* Base Shared Data Model for Condition
Instances of this logical model are not marked to be the target of a Reference
... participant 1..1 VSReference(5.1.0) The participant we are describing
... condition 0..* code The condition, disease, phenotypic feature, etc that this participant may have.
... conditonText 1..1 string Detailed description / free text about this condition.
... assertion 1..1 code Does the participant have this condition?
... conditionType 0..1 code Does this condition represent a specific "type" of condition, such as "Phenotypic Feature" vs "Disease" in a rare disease setting.
... ageAtOnset 0..1 code The age of onset for this condition. Could be expressed with a term, an age, or an age range.
... ageAtResolution 0..1 date 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..* code Any additional modifiers for this condition, such as severity.
... stage 0..1 date Cancer staging information
... location 0..* code 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 code Any spatial/location qualifiers
... lateralityQualifier 0..1 code Any laterality qualifiers
... assertionSource 0..1 code 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 code Who recorded this assertion about the Participant? This can support understanding the differences between self-report, doctor, trained research staff.

doco Documentation for this format

Snapshot View

NameFlagsCard.TypeDescription & Constraintsdoco
.. SharedDataModelCondition 0..* Base Shared Data Model for Condition
Instances of this logical model are not marked to be the target of a Reference
... participant 1..1 VSReference(5.1.0) The participant we are describing
... condition 0..* code The condition, disease, phenotypic feature, etc that this participant may have.
... conditonText 1..1 string Detailed description / free text about this condition.
... assertion 1..1 code Does the participant have this condition?
... conditionType 0..1 code Does this condition represent a specific "type" of condition, such as "Phenotypic Feature" vs "Disease" in a rare disease setting.
... ageAtOnset 0..1 code The age of onset for this condition. Could be expressed with a term, an age, or an age range.
... ageAtResolution 0..1 date 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..* code Any additional modifiers for this condition, such as severity.
... stage 0..1 date Cancer staging information
... location 0..* code 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 code Any spatial/location qualifiers
... lateralityQualifier 0..1 code Any laterality qualifiers
... assertionSource 0..1 code 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 code Who recorded this assertion about the Participant? This can support understanding the differences between self-report, doctor, trained research staff.

doco Documentation for this format

This structure is derived from Base

Summary

Mandatory: 0 element(3 nested mandatory elements)

Structures

This structure refers to these other structures:

 

Other representations of profile: CSV, Excel