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Class: DifferentialDiagnosis

A disease or condition that presents similarly to the focal disease and must be differentiated

URI: dismech:DifferentialDiagnosis

 classDiagram
    class DifferentialDiagnosis
    click DifferentialDiagnosis href "../DifferentialDiagnosis/"
      DifferentialDiagnosis : description

      DifferentialDiagnosis : disease_term





        DifferentialDiagnosis --> "0..1" DiseaseDescriptor : disease_term
        click DiseaseDescriptor href "../DiseaseDescriptor/"



      DifferentialDiagnosis : distinguishing_features

      DifferentialDiagnosis : evidence





        DifferentialDiagnosis --> "*" EvidenceItem : evidence
        click EvidenceItem href "../EvidenceItem/"



      DifferentialDiagnosis : name

      DifferentialDiagnosis : notes

      DifferentialDiagnosis : phenotypes





        DifferentialDiagnosis --> "*" Phenotype : phenotypes
        click Phenotype href "../Phenotype/"

Slots

Name Cardinality and Range Description Inheritance
name 1
String		 direct
description 0..1
String		 Clinical or mechanistic overlaps, shared presentations, and diagnostic consid... direct
phenotypes *
Phenotype		 direct
distinguishing_features *
String		 Key clinical, laboratory, imaging, or epidemiological features that help diff... direct
evidence * recommended
EvidenceItem		 direct
notes 0..1
String		 Additional clinical notes or management considerations direct
disease_term 0..1
DiseaseDescriptor		 The MONDO disease term for this disease direct

Usages

used by used in type used
Disease differential_diagnoses range DifferentialDiagnosis

Comments

  • Documents diseases/conditions with overlapping clinical presentations
  • Includes distinguishing features to help differentiate from the focal disease
  • Essential for clinical diagnostic accuracy

Identifier and Mapping Information

Schema Source

  • from schema: https://w3id.org/monarch-initiative/dismech

Mappings

Mapping Type Mapped Value
self dismech:DifferentialDiagnosis
native dismech:DifferentialDiagnosis

LinkML Source

Direct

name: DifferentialDiagnosis
description: A disease or condition that presents similarly to the focal disease and
  must be differentiated
comments:
- Documents diseases/conditions with overlapping clinical presentations
- Includes distinguishing features to help differentiate from the focal disease
- Essential for clinical diagnostic accuracy
from_schema: https://w3id.org/monarch-initiative/dismech
slots:
- name
- description
- phenotypes
- distinguishing_features
- evidence
- notes
- disease_term
slot_usage:
  description:
    name: description
    description: Clinical or mechanistic overlaps, shared presentations, and diagnostic
      considerations with the focal disease
  distinguishing_features:
    name: distinguishing_features
    description: Key clinical, laboratory, imaging, or epidemiological features that
      help differentiate this condition from the focal disease
  notes:
    name: notes
    description: Additional clinical notes or management considerations

Induced

name: DifferentialDiagnosis
description: A disease or condition that presents similarly to the focal disease and
  must be differentiated
comments:
- Documents diseases/conditions with overlapping clinical presentations
- Includes distinguishing features to help differentiate from the focal disease
- Essential for clinical diagnostic accuracy
from_schema: https://w3id.org/monarch-initiative/dismech
slot_usage:
  description:
    name: description
    description: Clinical or mechanistic overlaps, shared presentations, and diagnostic
      considerations with the focal disease
  distinguishing_features:
    name: distinguishing_features
    description: Key clinical, laboratory, imaging, or epidemiological features that
      help differentiate this condition from the focal disease
  notes:
    name: notes
    description: Additional clinical notes or management considerations
attributes:
  name:
    name: name
    examples:
    - value: Adolescent Nephronophthisis
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    identifier: true
    alias: name
    owner: DifferentialDiagnosis
    domain_of:
    - ClinicalTrial
    - ComputationalModel
    - DifferentialDiagnosis
    - Subtype
    - EpidemiologyInfo
    - Pathophysiology
    - Phenotype
    - Biochemical
    - HistopathologyFinding
    - Genetic
    - Environmental
    - Disease
    - Stage
    - AgentLifeCycleStage
    - Treatment
    - InfectiousAgent
    - Transmission
    - Assay
    - Diagnosis
    - Inheritance
    - Variant
    - Mechanism
    - ModelingConsideration
    - Definition
    - CriteriaSet
    - ComorbidityAssociation
    range: string
    required: true
  description:
    name: description
    description: Clinical or mechanistic overlaps, shared presentations, and diagnostic
      considerations with the focal disease
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: description
    owner: DifferentialDiagnosis
    domain_of:
    - Descriptor
    - GeneticContext
    - Dataset
    - ClinicalTrial
    - ComputationalModel
    - DifferentialDiagnosis
    - Subtype
    - CausalEdge
    - TreatmentMechanismTarget
    - EpidemiologyInfo
    - Pathophysiology
    - Phenotype
    - HistopathologyFinding
    - Environmental
    - Disease
    - Stage
    - AgentLifeCycle
    - AgentLifeCycleStage
    - AnimalModel
    - Treatment
    - InfectiousAgent
    - Transmission
    - Assay
    - Diagnosis
    - Inheritance
    - Variant
    - FunctionalEffect
    - Mechanism
    - ModelingConsideration
    - Definition
    - CriteriaSet
    - ConditionDescriptor
    - GOEnrichment
    - ComorbidityHypothesis
    - UpstreamConditionHypothesis
    - MechanisticHypothesis
    range: string
  phenotypes:
    name: phenotypes
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: phenotypes
    owner: DifferentialDiagnosis
    domain_of:
    - DifferentialDiagnosis
    - Disease
    - ComorbidityAssociation
    range: Phenotype
    multivalued: true
    inlined: true
    inlined_as_list: true
  distinguishing_features:
    name: distinguishing_features
    description: Key clinical, laboratory, imaging, or epidemiological features that
      help differentiate this condition from the focal disease
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: distinguishing_features
    owner: DifferentialDiagnosis
    domain_of:
    - DifferentialDiagnosis
    range: string
    multivalued: true
  evidence:
    name: evidence
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: evidence
    owner: DifferentialDiagnosis
    domain_of:
    - PhenotypeContext
    - Dataset
    - ClinicalTrial
    - ComputationalModel
    - DifferentialDiagnosis
    - Subtype
    - CausalEdge
    - TreatmentMechanismTarget
    - Finding
    - Prevalence
    - ProgressionInfo
    - EpidemiologyInfo
    - Pathophysiology
    - Phenotype
    - Biochemical
    - HistopathologyFinding
    - Genetic
    - Environmental
    - Stage
    - AgentLifeCycle
    - AgentLifeCycleStage
    - AnimalModel
    - Treatment
    - InfectiousAgent
    - Transmission
    - Diagnosis
    - Inheritance
    - Variant
    - ModelingConsideration
    - ClassificationAssignment
    - Definition
    - CriteriaSet
    - AssociationSignal
    - AssociationStatistics
    - ComorbidityHypothesis
    - UpstreamConditionHypothesis
    - MechanisticHypothesis
    range: EvidenceItem
    recommended: true
    multivalued: true
    inlined: true
    inlined_as_list: true
  notes:
    name: notes
    description: Additional clinical notes or management considerations
    examples:
    - value: Contagious stage where symptoms appear and the bacteria can be spread
        to others.
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: notes
    owner: DifferentialDiagnosis
    domain_of:
    - GeneticContext
    - OnsetDescriptor
    - PhenotypeContext
    - Dataset
    - ClinicalTrial
    - ComputationalModel
    - DifferentialDiagnosis
    - Prevalence
    - ProgressionInfo
    - EpidemiologyInfo
    - Pathophysiology
    - Phenotype
    - Biochemical
    - HistopathologyFinding
    - Genetic
    - Environmental
    - Disease
    - Stage
    - AgentLifeCycle
    - AgentLifeCycleStage
    - Treatment
    - Transmission
    - Diagnosis
    - ClassificationAssignment
    - Definition
    - CriteriaSet
    - TermMapping
    - MappingConsistency
    - ComorbidityAssociation
    - AssociationSignal
    - AssociationMetric
    - AssociationStatistics
    - MechanisticHypothesis
    range: string
  disease_term:
    name: disease_term
    description: The MONDO disease term for this disease
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: disease_term
    owner: DifferentialDiagnosis
    domain_of:
    - DifferentialDiagnosis
    - Disease
    range: DiseaseDescriptor
    inlined: true