| Version 1.0.0 |
Current Build |
Difference |
Notes |
| CodeSystems |
| Condition Inheritance Pattern | Added | |
| Sequence Phase Relationship | Added | |
| ToBeDeterminedCodes ('TbdCodes') | Added | |
| seq-phase-relationship | | Removed | |
| tbd-codes | | Removed | |
| ValueSets |
| Condition Inheritance Pattern | Added | |
| DNA Change Type | DNA Change Type | Comparison | 1 Breaking Change, 0 Changes, 8 Notes |
| Functional Annotation | | Removed | |
| Functional Effect | Added | |
| HGNC | HUGO Gene Nomenclature Committee Gene Names (HGNC) | Comparison | 1 Breaking Change, 0 Changes, 7 Notes |
| HGVS | Human Genome Variation Society (HGVS) Nomenclature | Comparison | 1 Breaking Change, 0 Changes, 7 Notes |
| High Low codes | Added | |
| Molecular Consequence | Added | |
| seq-phase-relationship | Sequence Phase Relationship | Comparison | 1 Breaking Change, 0 Changes, 16 Notes |
| tbd-codes | | Removed | |
| TBD Value Set | Added | |
| Variant Inheritance | Variant Inheritance | Comparison | 1 Breaking Change, 0 Changes, 10 Notes |
| StructureDefinitions |
| SimpleQuantity | SimpleQuantity | Comparison | 0 Breaking Changes, 0 Changes, 0 Notes |
| Related Artifact | Added | |
| Recommended Action | Recommended Action | Comparison | 1 Breaking Change, 2 Changes, 5 Notes |
| Related Artifact | | Removed | |
| Supporting Information | Supporting Information | Comparison | 1 Breaking Change, 3 Changes, 6 Notes |
| Diagnostic Implication | Added | |
| Risk Assessment Reference | Added | |
| Finding | Finding | Comparison | 1 Breaking Change, 8 Changes, 8 Notes |
| Finding | Therapeutic Implication | Comparison | 3 Breaking Changes, 8 Changes, 9 Notes |
| Genomics Base Observation | Genomics base | Comparison | 1 Breaking Change, 6 Changes, 7 Notes |
| Genomics Report | Genomics Report | Comparison | 1 Breaking Change, 2 Changes, 6 Notes |
| Genotype | Genotype | Comparison | 1 Breaking Change, 9 Changes, 7 Notes |
| Grouper | Grouper | Comparison | 1 Breaking Change, 7 Changes, 6 Notes |
| Haplotype | Haplotype | Comparison | 1 Breaking Change, 11 Changes, 7 Notes |
| Implication | Genomic Implication | Comparison | 1 Breaking Change, 8 Changes, 9 Notes |
| Inherited Disease Pathogenicity | | Removed | |
| Medication Efficacy | | Removed | |
| Medication High Risk | | Removed | |
| Medication Implication | | Removed | |
| Medication Implication | Therapeutic Implication | Comparison | 2 Breaking Changes, 8 Changes, 9 Notes |
| Medication Metabolism | | Removed | |
| Medication Transporter | | Removed | |
| Medication Statement | | Removed | |
| Microsatellite instability | Added | |
| Overall Interpretation | Overall Interpretation | Comparison | 1 Breaking Change, 10 Changes, 7 Notes |
| Region Studied | Region Studied | Comparison | 1 Breaking Change, 7 Changes, 7 Notes |
| Sequence Phase Reltionship | Sequence Phase Relationship | Comparison | 1 Breaking Change, 11 Changes, 8 Notes |
| ServiceRequest | Genomics service request | Comparison | 1 Breaking Change, 6 Changes, 8 Notes |
| Somatic Diagnostic | | Removed | |
| Somatic Implication | | Removed | |
| Somatic Predictive | | Removed | |
| Somatic Prognostic | | Removed | |
| Specimen | Genomics specimen | Comparison | 1 Breaking Change, 1 Change, 8 Notes |
| TaskMedChg | Medication Usage Task | Comparison | 1 Breaking Change, 4 Changes, 8 Notes |
| TaskRecFollowup | Recommended Followup | Comparison | 1 Breaking Change, 7 Changes, 8 Notes |
| Therapeutic Implication | Added | |
| Tumor Mutation Burden | Added | |
| Variant | Variant | Comparison | 1 Breaking Change, 15 Changes, 7 Notes |