Class: Diagnosis

URI: phenopackets:Diagnosis

erDiagram Diagnosis { } GenomicInterpretation { InterpretationStatus interpretationStatus string subjectOrBiosampleId } VariantInterpretation { AcmgPathogenicityClassification acmgPathogenicityClassification TherapeuticActionability therapeuticActionability } GeneDescriptor { stringList alternateIds stringList alternateSymbols string description string symbol string valueId stringList xrefs } OntologyClass { string id string label } Diagnosis ||--|o OntologyClass : "disease" Diagnosis ||--}o GenomicInterpretation : "genomicInterpretations" GenomicInterpretation ||--|o GeneDescriptor : "gene" GenomicInterpretation ||--|o VariantInterpretation : "variantInterpretation" VariantInterpretation ||--|o VariationDescriptor : "variationDescriptor"

Slots

Name	Cardinality and Range	Description	Inheritance
disease	0..1 OntologyClass	The disease/condition assigned to the diagnosis	direct
genomicInterpretations	0..* GenomicInterpretation	genomic features containing the status of their contribution towards the diag...	direct

Usages

used by	used in	type	used
Interpretation	diagnosis	range	Diagnosis

Identifier and Mapping Information

Schema Source

from schema: https://w3id.org/linkml/phenopackets/phenopackets

Mappings

Mapping Type	Mapped Value
self	phenopackets:Diagnosis
native	phenopackets:Diagnosis

LinkML Source

Direct

name: Diagnosis
description: ''
from_schema: https://w3id.org/linkml/phenopackets/phenopackets
attributes:
  disease:
    name: disease
    annotations:
      rank:
        tag: rank
        value: 1
    description: The disease/condition assigned to the diagnosis.Details about this
      disease may be contained in the `diseases` field in the Phenopacket.
    from_schema: https://w3id.org/linkml/phenopackets/phenopackets
    rank: 1000
    domain_of:
    - Diagnosis
    range: OntologyClass
    inlined: true
    inlined_as_list: true
  genomicInterpretations:
    name: genomicInterpretations
    annotations:
      rank:
        tag: rank
        value: 2
    description: genomic features containing the status of their contribution towards
      the diagnosis
    from_schema: https://w3id.org/linkml/phenopackets/phenopackets
    rank: 1000
    multivalued: true
    domain_of:
    - Diagnosis
    range: GenomicInterpretation
    inlined: true
    inlined_as_list: true

Induced

name: Diagnosis
description: ''
from_schema: https://w3id.org/linkml/phenopackets/phenopackets
attributes:
  disease:
    name: disease
    annotations:
      rank:
        tag: rank
        value: 1
    description: The disease/condition assigned to the diagnosis.Details about this
      disease may be contained in the `diseases` field in the Phenopacket.
    from_schema: https://w3id.org/linkml/phenopackets/phenopackets
    rank: 1000
    alias: disease
    owner: Diagnosis
    domain_of:
    - Diagnosis
    range: OntologyClass
    inlined: true
    inlined_as_list: true
  genomicInterpretations:
    name: genomicInterpretations
    annotations:
      rank:
        tag: rank
        value: 2
    description: genomic features containing the status of their contribution towards
      the diagnosis
    from_schema: https://w3id.org/linkml/phenopackets/phenopackets
    rank: 1000
    multivalued: true
    alias: genomicInterpretations
    owner: Diagnosis
    domain_of:
    - Diagnosis
    range: GenomicInterpretation
    inlined: true
    inlined_as_list: true