GA4GH Pedigree FHIR Implementation Guide
0.1.0 - ci-build

GA4GH Pedigree FHIR Implementation Guide - Local Development build (v0.1.0). See the Directory of published versions

Artifacts Summary

Contents:

This page provides a list of the FHIR artifacts defined as part of this implementation guide.

Structures: Resource Profiles

These define constraints on FHIR resources for systems conforming to this implementation guide

Affected Status

Whether or not the individual is affected by the condition being investigated in this pedigree; included for PED backwards compatibility.
Pedigree

A Pedigree is collection of selected information about a family, including the individuals, relationships between them, and relevant health conditions.
Pedigree Individual

Represents and individual in a pedigree.
Pedigree Relationship

Represents a relationship between individuals in a pedigree.

Structures: Extension Definitions

These define constraints on FHIR data types for systems conforming to this implementation guide

Unborn

Indicates if an individual in a pedigree hasn’t been born yet.

Terminology: Value Sets

These define sets of codes used by systems conforming to this implementation guide

Pedigree Relationship Types

The types of relationships between individuals in a pedigree.

Terminology: Code Systems

These define new code systems used by systems conforming to this implementation guide

Section Type

Represents the different types of sections in a pedigree.
Family History Relations Ontology

A family relationships ontology.

Example: Example Instances

These are example instances that show what data produced and consumed by systems conforming with this implementation guide might look like

Abe

Abe is Homer’s father.
Affected Status Father

The affected status of the father.
Affected Status Mother

The affected status of the mother.
Affected Status Proband

The affected status of the proband.
Bart

Bart is the proband and consultand.
Bart-Homer Relationship

The relationship between Bart and his father.
Bart-Marge Relationship

The relationship between Bart and his mother.
Bart's condition

Attention deficit hyperactivity disorder, the condition that triggered the collection of this pedigree.
Dr Nick

Dr Nick, author of this pedigree.
Father

The father in the trio.
Father First Condition

Cardiomegaly, the first condition suffered by the father.
Father Second Condition

Shuffling gait, the second condition suffered by the father.
Homer

Homer is Bart’s father and Marge’s husband.
Homer-Abe Relationship

The relationship between Homer and his father.
Marge

Marge is Bart’s mother and Homer’s wife.
Marge-Homer Relationship

The relationship between Marge and her husband.
Melbourne Genomics

The Melbourne Genomics organisation.
Mother

The mother in the trio.
Proband

The proband in the trio.
Proband Condition

Progressive gait ataxia, the condition suffered by the proband.
Proband Father Relationship

The relationship between the proband and her father.
Proband Mother Relationship

The relationship between the proband and her mother.
Simpson's pedigree

A pedigree of the Simpson’s family.
The trio's pedigree

A pedigree of the trio.
Pedigree 1 Affected Status Example 1
Pedigree 1 Condition Example 1
Pedigree 1 Individual Example 1
Pedigree 1 Individual Example 10
Pedigree 1 Individual Example 11
Pedigree 1 Individual Example 12
Pedigree 1 Individual Example 13
Pedigree 1 Individual Example 2
Pedigree 1 Individual Example 3
Pedigree 1 Individual Example 4
Pedigree 1 Individual Example 5
Pedigree 1 Individual Example 6
Pedigree 1 Individual Example 7
Pedigree 1 Individual Example 8
Pedigree 1 Individual Example 9
Pedigree 1 Organization Example 1
Pedigree 1 Pedigree Example 1
Pedigree 1 Relationship Example 1
Pedigree 1 Relationship Example 10
Pedigree 1 Relationship Example 11
Pedigree 1 Relationship Example 12
Pedigree 1 Relationship Example 13
Pedigree 1 Relationship Example 14
Pedigree 1 Relationship Example 15
Pedigree 1 Relationship Example 16
Pedigree 1 Relationship Example 2
Pedigree 1 Relationship Example 3
Pedigree 1 Relationship Example 4
Pedigree 1 Relationship Example 5
Pedigree 1 Relationship Example 6
Pedigree 1 Relationship Example 7
Pedigree 1 Relationship Example 8
Pedigree 1 Relationship Example 9