Subcategory Q93, Monosomies and deletions from the autosomes, not elsewhere classified, was expanded and new codes were created to specifically identify Angelman Syndrome (Q93.51) and other deletions of part of a chromosome (Q93.59).
Angelman Syndrome (AS) is a genetic neurodevelopmental disorder characterized by cognitive disability, motor dysfunction, speech impairment, hyperactivity, seizures, excessive laughing, decreased sleeping and gastroesophageal reflux. AS generally results from deletion, mutation or silencing of the gene for ubiquitin-protein ligase E3A (UBE3A). Deletions usually start and end at common breakpoints. Certain symptoms are associated with deletions involving particular regions, such as epilepsy. Some cases with large deletions are also associated with hypopigmentation or oculocutaneous albinism. There are different classes of deletions identified.
AS affects an estimated 1 in 12,000 to 20,000 people. With life expectancy being close to normal, this corresponds to approximately 15,000 to 25,000 people in the US being affected.This code was created at the request of the Angelman Biomarkers and Outcome Measures Alliance to aid in the tracking of these patients, for clinical and research purposes.