Table 5 Depicts the derivation of data element labelling for our RD-CDM v2.0.0, which aligns either with the ERDRI-CDS, HL7 FHIR v4.0.1 base resources or the GA4GH Phenopacket Schema v2.0, or neither, where a custom name was assigned.

From: An ontology-based rare disease common data model harmonising international registries, FHIR, and Phenopackets

2) Labelling Layer

 

Data element label derived from the ERDRI-CDS

Data element label derived from HL7 FHIR or the Phenopacket Schema

Data element label derived from neither (custom label)

∑(RD-CDM

(1) Formal Criteria

1.1

—

1.2

2

(2) Personal Information

2.1, 2.2

2.3, 2.4

2.5

5

(3) Patient Status

—

—

3.1–3.6

6

(4) Care Pathway

—

4.1–4.4

—

4

(5) Disease

5.3, 5.5

5.2, 5.7–5.9

5.1, 5.4, 5.6

9

(6.1) Genetic Findings

—

6.1.1–6.1.16

—

16

(6.2) Phenotypic Findings

6.2.1

6.2.2–6.2.9

—

9

(6.3) Measurements

—

6.3.1–6.3.6

—

6

(6.4) Family History

—

6.4.1, 6.4.5–6.4.12

6.4.2–6.4.4, 6.4.13

13

(7) Consent

7.4–7.7

7.1–7.3

—

7

(8) Disability

8.1

—

—

1

Sum

11

52

15

78

% of all elements

14%

67%

19%

100%

  1. Labelling is defined as the data element’s names either directly or partly matching with those of the data standards or set or given. The table highlights that 67% of data element labelling is derived from HL7 FHIR Resources or the GA4GH Phenopacket Schema, 14% from ERDRI-CDS, and 19% are assigned custom names.
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