Rare disease nomenclature and coding: challenges, systems, and policies in the global context
Rare diseases remain largely invisible in health system coding, requiring global standardization to enable equitable data collection and policy.
INSERM/Orphanet review documents global inadequacy of RD coding in health systems, where ICD-based terminologies fail to capture millions of rare disease patients, impeding care, research, and policy. Standardized RD-specific nomenclature and national policy harmonization are prerequisites for equitable rare disease health system representation.
What the study was
- Study design
- Policy review and analysis
- Population
- Rare disease patients (global policy context)
- Category
- Public Health
- Maturity
- Validated
- Journal
- Archives of Medical Research
Why it surfaced
INSERM/Orphanet policy synthesis for rare disease infrastructure; relevant to watchlist context.
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