Table 9 Describes the value set choice layer for the data element’s value sets in the RD-CDM v2.0.0, where the net total of all value set choices is included, even if the same value set is used more than once (e.g., the value set for natural family members).

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

6) Value Set Choice Layer

 

Value Set Choices in encoded with HL7 FHIR codes

Value Set Choices in encoded with GA4GH Phenopacket Schema codes

Value Set Choices in encoded with SNOMED CT

Value Set Choices in encoded with LOINC

Value Set Choices in encoded with HPO

Value Set Choices in encoded with Custom Codes (RD-CDM v2.0.0)

∑(RD-CDM)

(1) Formal Criteria

0

(2) Personal Information

21

21

(3) Patient Status

15

15

(4) Care Pathway

15

1

1

17

(5) Disease

16

11

27

(6.1) Genetic Findings

37

13

13

63

(6.2) Phenotypic Findings

2

23

25

(6.3) Measurements

0

(6.4) Family History

4

40

44

(7) Consent

6

9

15

(8) Disability

0

Sum

78

13

99

13

23

1

227

% of all elements

34%

5%

45%

5%

10%

1%

100%

  1. The value sets are categorised based on their alignment with HL7 FHIR v4.0.1, GA4GH Phenopacket Schema v2.0, SNOMED CT, LOINC, HPO, and custom encoding. The table shows that 34% of the value set choices align with HL7 FHIR, 5% with GA4GH Phenopacket Schema, 45% use SNOMED, 5% use LOINC, 10% use HPO, and 1% use custom codes.