Class: ISDSNosologyAssignment

ISDS Nosology group assignment for a genetic skeletal disorder, per the Nosology of Genetic Skeletal Disorders (2023 revision, 11th edition; Unger et al., PMID:36779427), which supersedes the 2019 revision (PMID:31633310). Record the provenance — which revision, the group number/name, and the listed disorder name where it differs from the dismech entry name — in notes. Assignments may legitimately cite either revision while the 2019-derived backfill is being re-verified against the 2023 table; the notes must say which one.

URI: dismech:class/ISDSNosologyAssignment

 classDiagram
    class ISDSNosologyAssignment
    click ISDSNosologyAssignment href "../../classes/ISDSNosologyAssignment/"
      ClassificationAssignment <|-- ISDSNosologyAssignment
        click ClassificationAssignment href "../../classes/ClassificationAssignment/"

      ISDSNosologyAssignment : classification_value





        ISDSNosologyAssignment --> "1" ISDSNosologyGroupEnum : classification_value
        click ISDSNosologyGroupEnum href "../../enums/ISDSNosologyGroupEnum/"



      ISDSNosologyAssignment : evidence





        ISDSNosologyAssignment --> "* _recommended_" EvidenceItem : evidence
        click EvidenceItem href "../../classes/EvidenceItem/"



      ISDSNosologyAssignment : notes

Inheritance

• ClassificationAssignment
  • ISDSNosologyAssignment

Slots

Name	Cardinality and Range	Description	Inheritance
classification_value	1 ISDSNosologyGroupEnum	The classification value assigned	direct
evidence	* recommended EvidenceItem		ClassificationAssignment
notes	0..1 String		ClassificationAssignment

Usages

used by	used in	type	used
DiseaseClassifications	isds_skeletal_category	range	ISDSNosologyAssignment

Identifier and Mapping Information

Schema Source

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

Mappings

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

LinkML Source

Direct

name: ISDSNosologyAssignment
description: ISDS Nosology group assignment for a genetic skeletal disorder, per the
  Nosology of Genetic Skeletal Disorders (2023 revision, 11th edition; Unger et al.,
  PMID:36779427), which supersedes the 2019 revision (PMID:31633310). Record the provenance
  — which revision, the group number/name, and the listed disorder name where it differs
  from the dismech entry name — in ``notes``. Assignments may legitimately cite either
  revision while the 2019-derived backfill is being re-verified against the 2023 table;
  the ``notes`` must say which one.
from_schema: https://w3id.org/monarch-initiative/dismech
is_a: ClassificationAssignment
slots:
- classification_value
slot_usage:
  classification_value:
    name: classification_value
    range: ISDSNosologyGroupEnum
    required: true

Induced

name: ISDSNosologyAssignment
description: ISDS Nosology group assignment for a genetic skeletal disorder, per the
  Nosology of Genetic Skeletal Disorders (2023 revision, 11th edition; Unger et al.,
  PMID:36779427), which supersedes the 2019 revision (PMID:31633310). Record the provenance
  — which revision, the group number/name, and the listed disorder name where it differs
  from the dismech entry name — in ``notes``. Assignments may legitimately cite either
  revision while the 2019-derived backfill is being re-verified against the 2023 table;
  the ``notes`` must say which one.
from_schema: https://w3id.org/monarch-initiative/dismech
is_a: ClassificationAssignment
slot_usage:
  classification_value:
    name: classification_value
    range: ISDSNosologyGroupEnum
    required: true
attributes:
  classification_value:
    name: classification_value
    description: The classification value assigned
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: classification_value
    owner: ISDSNosologyAssignment
    domain_of:
    - ICDOMorphologyAssignment
    - HarrisonsChapterAssignment
    - LysosomalStorageAssignment
    - MechanisticNosologyAssignment
    - IUISAssignment
    - ChannelopathyAssignment
    - ICIMDAssignment
    - ISDSNosologyAssignment
    - NIHResearchPriorityAssignment
    - ILOCausativeAgentAssignment
    - ILODiseaseCategoryAssignment
    - EUOccupationalScheduleAssignment
    - HazardAgentTypeAssignment
    - ExposureRouteAssignment
    - ExposureDurationAssignment
    - IARCCarcinogenGroupAssignment
    - GHSHealthHazardClassAssignment
    - ExposomeDomainAssignment
    range: ISDSNosologyGroupEnum
    required: true
  evidence:
    name: evidence
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: evidence
    owner: ISDSNosologyAssignment
    domain_of:
    - PhenotypeContext
    - Dataset
    - ExperimentalModel
    - Experiment
    - ExperimentalPerturbation
    - ExperimentalReadout
    - ExperimentalControl
    - ClinicalTrial
    - ComputationalModel
    - DifferentialDiagnosis
    - Subtype
    - CausalEdge
    - TreatmentMechanismTarget
    - EnvironmentalMechanismTarget
    - ModelDivergence
    - ModelMechanismLink
    - BiomarkerReadout
    - PhenotypeReadout
    - ReferenceRange
    - SurrogateEndpoint
    - ExternalAssertion
    - Finding
    - Prevalence
    - GeneCaseFraction
    - ProgressionInfo
    - ClinicalBurden
    - EpidemiologyInfo
    - Pathophysiology
    - Phenotype
    - Biochemical
    - HistopathologyFinding
    - ImagingFinding
    - Genetic
    - Environmental
    - Stage
    - AgentLifeCycle
    - AgentLifeCycleStage
    - AnimalModel
    - Treatment
    - InfectiousAgent
    - Transmission
    - Diagnosis
    - Inheritance
    - Variant
    - ModelingConsideration
    - ClassificationAssignment
    - Definition
    - AlgorithmValidationStatus
    - CriteriaSet
    - AssociationSignal
    - AssociationStatistics
    - ComorbidityHypothesis
    - UpstreamConditionHypothesis
    - MechanisticHypothesis
    - Discussion
    - GroupingCriteria
    - GroupingMember
    - DifferentiatingMechanism
    - ModuleCollection
    - ModuleCollectionMember
    range: EvidenceItem
    recommended: true
    multivalued: true
    inlined: true
    inlined_as_list: true
  notes:
    name: notes
    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: ISDSNosologyAssignment
    domain_of:
    - GeneticContext
    - OnsetDescriptor
    - PhenotypeContext
    - Dataset
    - ExperimentalModel
    - Experiment
    - ExperimentalPerturbation
    - ExperimentalReadout
    - ExperimentalControl
    - ClinicalTrial
    - ComputationalModel
    - ModelVariable
    - DifferentialDiagnosis
    - ReferenceRange
    - SurrogateEndpoint
    - SurrogateEndpointCollection
    - ExternalAssertion
    - TrackedIssue
    - Prevalence
    - GeneCaseFraction
    - ProgressionInfo
    - ClinicalBurden
    - EpidemiologyInfo
    - Pathophysiology
    - Phenotype
    - Biochemical
    - HistopathologyFinding
    - ImagingFinding
    - Genetic
    - Environmental
    - Disease
    - Stage
    - AgentLifeCycle
    - AgentLifeCycleStage
    - AnimalModel
    - Treatment
    - Transmission
    - Diagnosis
    - ClassificationAssignment
    - Definition
    - CriteriaSet
    - TermMapping
    - MappingConsistency
    - ComorbidityAssociation
    - AssociationSignal
    - AssociationMetric
    - AssociationStatistics
    - MechanisticHypothesis
    - Discussion
    - Grouping
    - GroupingCriteria
    - GroupingMember
    - DifferentiatingMechanism
    - ModuleCollection
    - ModuleCollectionMember
    range: string