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).
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% |