Classes

The diagram below shows an overview of the pedigree classes. Lines between classes indicate composition.

Overview of classes

Individual

The subject of a Pedigree is represented by an Individual class. This class intends to represent an individual person or patient who is a member of the pedigree being investigated.

Field

Multiplicity

Description

id

1..1

External identifier for the individual

sex

1..1

Sex assigned at birth

gender

0..1

Presumed or reported gender identity

name

0..1

Name of the individual

dateOfBirth

0..1

Birth date of the individual, can be just birth year in most cases

age

0..1

Age of the individual, can be either Age, Estimated Age (or Ontology Class), Age Range, and/or Gestational Age; See also Phenopackets’ TimeElement.

raceEthnicityAncestry

0..*

Race, Ethnicity, or Ancestry of the individual; terms from the Human Ancestry Ontology (HANCESTRO) are recommended.

deceased

0..1

The presumed/accepted life status of the individual as of the pedigree collection date

affected

0..1

Whether or not the individual is affected by the condition being investigated in this pedigree (Pedigree.reason)

Relationship

The Relationship class defines the family relations in a pedigree.

Field

Multiplicity

Description

individual

1..1

Identifier of the subject Individual; equivalent to the Biolink “subject”

relation

1..1

The relationship the individual has to the relative (e.g., if the individual is the relative’s biological mother, then relation could be isBiologicalMotherOf [KIN:027]); terms should come from the KIN Ontology.

relative

1..1

Identifier of the relative Individual; equivalent to the Biolink “object”

Pedigree

A clinical Pedigree is curated selection of information about a family, including the individuals, relationships between them, and relevant health conditions.

Field

Multiplicity

Description

id

1..1

External identifier for the family being investigated

indexPatients

0..*

Identified Individual in the family of a health condition of focus being investigated: Proband, Consultand, First Person Tested Positive

individuals

0..*

Collection of Individual who are the members of this pedigree

relationships

0..*

Collection of Relationship between the individuals who are the members of this pedigree

reason

0..1

The reason for pedigree collection, a health condition of focus being investigated in the family; if any Individual has the affected property defined, it refers to this condition.

status

0..1

Status of the pedigree resource collection

narrative

0..1

Summary of the pedigree resource for human interpretation

date

0..1

The date the pedigree was collected or last updated, as ISO full or partial date, i.e. YYYY, YYYY-MM, or YYYY-MM-DD