How do you properly document an etiology (cause of a disease or condition) when it is unknown?

How to Document an Uncertain Etiology

When the etiology of a disease or condition is unknown or uncertain, document the level of diagnostic confidence explicitly and classify the uncertainty as "highly likely," "indeterminate," or "extremely unlikely" based on available clinical information. 1

Documentation Framework for Uncertain Etiology

Specify Your Level of Diagnostic Confidence

• Document whether you have "high confidence" or "low confidence" in your working diagnosis, as this guides subsequent testing decisions and communicates the degree of uncertainty to other providers 1
• Use standardized terminology to classify diagnostic certainty: "highly likely," "indeterminate," or "extremely unlikely" rather than vague descriptors 1
• If the diagnosis remains indeterminate after initial evaluation, explicitly state this and document your provisional diagnosis while outlining the plan for further evaluation 1

Document What Has Been Excluded

• Clearly state which diagnoses have been reliably excluded through testing or clinical evaluation, as this narrows the differential and provides an empirical risk framework when the cause remains unknown 2
• For conditions where specific etiologies carry different recurrence risks or treatment implications, document which specific causes have been ruled out (e.g., infectious vs. genetic vs. autoimmune) 2

Acknowledge Uncertainty Explicitly

• State directly in your documentation when the etiology is unknown or uncertain rather than omitting this information, as acknowledging uncertainty is a key management strategy that improves diagnostic safety 3
• Document the specific aspects of uncertainty: whether it relates to probability/risk, ambiguity in test results, or complexity of the clinical presentation 3

Creating a Diagnostic Safety Net in Documentation

Outline Your Differential Diagnosis

• List the working differential diagnoses in order of likelihood, including both common conditions with atypical presentations and relevant rare diagnoses 1
• Document the clinical reasoning behind each diagnosis on your differential, including which features support or argue against each possibility 1

Document Follow-Up Plans with Specific Timeframes

• Create a clear follow-up plan with specific timeframes for reassessment (e.g., "reassess in 2 weeks" rather than "follow up as needed") 1
• Document red flag symptoms that should prompt earlier re-evaluation, creating a diagnostic safety net for the patient 3
• Specify what additional information or test results would change your working diagnosis 1

Document Communication with the Patient

• Record that you explained the diagnostic uncertainty to the patient and family, including what is known, what remains unknown, and the plan for further evaluation 1, 3
• Document the patient's understanding of the uncertain diagnosis and their preferences regarding further workup 4
• Note any worst-case/best-case scenario discussions, as this is a recommended strategy for managing diagnostic uncertainty 3

Special Documentation Considerations

When Empirical Treatment Is Started

• If initiating treatment before confirming etiology, document the rationale for empirical therapy and the specific clinical features that guided your choice 1
• Note the expected response to treatment and how this will inform your diagnostic thinking 1

When Multidisciplinary Input Is Sought

• Document specialist consultations and their input on the uncertain etiology, as multidisciplinary discussion is recommended for complex cases 1
• Record how specialist input changed or refined your differential diagnosis 1

For Cases Requiring Reporting

• Document any unusual clusters or patterns of illness even when etiology is undetermined, as this may represent the sentinel case of an outbreak requiring public health notification 2

Common Documentation Pitfalls to Avoid

• Avoid vague terminology like "etiology unclear" without further elaboration—instead, specify what is known, what has been excluded, and what remains to be determined 1
• Do not omit documentation of uncertainty out of concern it reflects poorly on clinical acumen; transparent acknowledgment of uncertainty is considered best practice 3, 5
• Avoid failing to document the iterative nature of diagnosis—note that the working diagnosis may be revised as new information becomes available 1
• Do not neglect to document contextual patient information (occupation, exposures, family history) that may later prove relevant to determining etiology 3