Observed abnormalities
Represent features such as developmental delay, neuropathy, fatigue, rash or dysmorphism as observations—not diagnoses.
V13 · PHENOTYPE + GENOMICSFrom phenotype to the right expertise,
From phenotype to the right expertise,
without pretending correlation is diagnosis.
V13 introduces a dedicated phenotype/genomics layer so unresolved cases can be structured around observed abnormalities, family history and research relationships while preserving uncertainty.
Canonical identityProvenanceMultilingualConfidenceFreshness
Gene relationships
Attach gene-disease and phenotype-gene relationships with source and evidence status.
Diagnostic navigation
Use phenotype clusters to identify appropriate specialties, genetics services and research programmes—not to auto-diagnose.
Undiagnosed Intelligence →Variant/evidence context
Keep research findings and clinically established interpretations distinct.
Evidence Inspector →Pedigree context
Production architecture can model family-history relationships under appropriate consent and privacy controls.
FHIR-shaped exchange
Design mappings around interoperable clinical resources rather than opaque proprietary blobs.
Interoperability →