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Table 1 Disease phenotypes

From: Genome screen in familial intracranial aneurysm

Classification

Definition

Definite

Medical records document intracranial aneurysm (IA) on angiogram, operative report, autopsy, or a non-invasive imaging report (MRA, CTA) demonstrates an IA measuring 7 mm or greater.

Probable

Death certificate mentions probable intracranial aneurysm without supporting documentation or autopsy. Death certificate mentions subarachnoid hemorrhage (SAH) without mention of IA and a phone screen is consistent with ruptured IA (severe headache or altered level of consciousness) rapidly leading to death. An MRA documents an IA that is less than 7 mm but greater than 3 mm.

Possible

Non-invasive imaging report documents an aneurysm measuring between 2 and 3 mm. SAH was noted on death certificate, without any supporting documentation, autopsy or recording of headache or altered level of consciousness on phone screen. Death certificate lists 'aneurysm' without specifying cerebral location or accompanying SAH.

Not a Case

There is no supporting information for a possible IA.