Following discussion on the proposal:
enzyme_deficiency_briefing_v3.docx.pdf (187.8 KB) we seek answers from the EAG members on the remaining questions:
- Does the EAG endorse the backwards-compatible deconflation pattern — retaining existing conflated concepts as disease concepts and creating new concepts for the deficiency states?
- Does the EAG endorse Orphanet (preferred) and OMIM (secondary) as the authoritative sources for preferred disease names in this content set, with the terminological normalisation conducted category by category as part of the phased project?
- Does the EAG endorse the Deficiency of [enzyme name] (disorder) FSN pattern for newly created deficiency state concepts, and as the target pattern for terminological consistency review of non-conflated deficiency state concepts already in the release?
- Does the EAG agree that congenital and genetic parents belong on disease concepts only, and should not be applied to deficiency state concepts?
- Does the EAG agree that implementers must be explicitly warned — via release notes — that ECL expressions using <<129456006 will change behaviour after deconflation?
- Does the EAG agree that duplicate description warnings arising from description redistribution between disease and deficiency state concepts are expected artefacts that should not block release?
- Does the EAG agree that text definitions for same-name concept pairs are strongly encouraged but not mandatory, and that the formal model carries the primary definitional distinction?