Parent class for all concepts that may fit the following uses: - referenced in a ValueSet - provide for an optional UserLabel in lieu of the registered id label - define a novel concept with only a UserLabel for a given subclass

Scope and Usage

These types represent base domain-related classes needed to describe variant pathogenicity data, such as alleles and conditions. Several of these entities are more fully described in the ClinGen allele model, but are included here for convenience.


Name Type Cardinality Description IRI Defined in
label string 0..1 A name given to the resource. RDFS:label Entity
description string 0..1 Description may include but is not limited to: an abstract, a table of contents, a graphical representation, or a free-text account of the resource. DC:description Entity