Class: GeneticCondition

A disease, or a set of one or more co-occurring phenotypes, controlled by genetic factors with a defined inheritance pattern.

URI: vaspec:GeneticCondition

Parents

• is_a: Entity - Anything that exists, has existed, or will exist.

Referenced by Class

Attributes

Own

• GeneticCondition➞componentDisease _0..*
  • Description: A disease that is manifest in the genetic condition
  • Range: Coding
• GeneticCondition➞componentPhenotype _0..*
  • Description: A phenotype that is manifest in the genetic condition
  • Range: Coding
• GeneticCondition➞inheritancePattern _0..1
  • Description: The pattern in which the condition is passed from one generation to the next.
  • Range: Coding
• GeneticCondition➞contributingGene _0..*
  • Description: Genes implicated in the condition
  • Range: Gene

Inherited from Entity:

• Element➞extensionElement _0..*
  • Description: A key-value data structure that allows definition of custom fields to capture information not directly supported by the VA specification.
  • Range: Extension
• Entity➞localId _1..1
  • Description: The logical identifier of the entity in the system of record, e.g. a UUID. This 'id' is unique within a given system. The identified entity may have a different 'id' in a different system.
  • Range: Identifier
• Entity➞globalIdentifier _0..*
  • Description: A business identifier or accession number for the entity, typically as provided by an external system or authority, that is globally unique and persists across implementing systems.
  • Range: Identifier
• Entity➞type _1..1
  • Description: The schema class that is instantiated by the data object. Must be the name of a class from the VA schema.
  • Range: Class
• Entity➞label _0..1
  • Description: A primary name for the Entity.
  • Range: String
• Entity➞alternativeLabel _0..*
  • Description: An alternative name for the Entity.
  • Range: String
• Entity➞description _0..1
  • Description: A free text description of the Entity.
  • Range: String
• Entity➞hasURL _0..*
  • Description: The URL/web address of a digital resource representing the entity, or providing information about it.
  • Range: Url
• Entity➞reference _0..*
  • Description: A document or other Information Entity that describes the Entity.
  • Range: InformationEntity
• Entity➞xref _0..*
  • Description: A cross-reference to database identifier(s) representing the same or a closely related entity or concept as the Entity.
  • Range: String
• Entity➞thisRecordMeta _0..1
  • Description: A reusable structure that encapsulates provenance metadata about the present record/data object (as opposed to provenance information about the real world entity this record/data object represents).
  • Range: RecordMetadata
• Entity➞sourceRecordMeta _0..*
  • Description: A reusable structure that encapsulates provenance metadata that applies to an upstream record/data objdct about the Entity, from which content of the present record was derived.
  • Range: RecordMetadata

Other properties

Comments:		A Genetic Condition object can be used to compose a condition description based on component diseases and phenotypes, contributing genes, and an inheritance pattern. For now it is a simple/loose collection of features. We can define a more complex model to support more precise and nuanced characterizations, as needed in future iterations.