Table 7 Depicts the data type binding of data elements in the RD-CDM v2.0.0 with the given standards used.

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

4) Data Type Layer

 

Data element value types according to HL7 FHIR resources

Data element value types according to the GA4GH Phenopacket Schema

Data element value types according to HL7 FHIR Resources & the GA4GH Phenopacket Schema

Data element value types according to neither HL7 FHIR Resources nor the GA4GH Phenopackets Schema

∑(RD-CDM)

(1) Formal Criteria

1.1

—

1.2

—

2

(2) Personal Information

2.5

2.3

2.1, 2.2, 2.4

—

5

(3) Patient Status

3.4

—

3.1–3.3

3.5, 3.6

6

(4) Care Pathway

4.1, 4.2, 4.3, 4.4

—

—

—

4

(5) Disease

—

—

5.1–5.9

—

9

(6.1) Genetic Findings

6.1.4, 6.1.12, 6.1.13, 6.1.16

6.1.2, 6.1.3, 6.1.15

6.1.1, 6.1.5–6.1.11, 6.1.14

—

16

(6.2) Phenotypic Findings

—

—

6.2.1–6.2.9

—

9

(6.3) Measurements

—

—

6.3.1–6.3.6

—

6

(6.4) Family History

6.4.1, 6.4.5, 6.4.6, 6.4.11

—

6.4.7, 6.4.9, 6.4.13

6.4.2–6.4.4, 6.4.8, 6.4.10, 6.4.12

13

(7) Consent

7.1–7.5

—

—

7.6, 7.7

7

(8) Disability

—

—

—

8.1

1

Sum

20

4

43

11

78

% of all elements

26%

5%

55%

14%

100%

  1. Within FHIR resources, a CodableConcept, or in the GA4GH Phenopacket Schema, an OntologyClass, is equivalent to the data type Code in our model. Further, a TimeElement in the GA4GH Phenopacket Schema is equivalent to a Date value type in our model. The table categorises data elements based on their value type alignment with HL7 FHIR resources, GA4GH Phenopacket Schema, both HL7 FHIR resources and GA4GH Phenopacket Schema, or neither. It shows that 26% of all 78 data element value types align with HL7 FHIR resources, 5% with GA4GH Phenopacket Schema, 55% with both HL7 FHIR resources and GA4GH Phenopacket Schema, and 14% with neither.
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