Sucrase-isomaltase deficiency

This code identifies a genetic disorder characterized by the inability to properly digest sucrose and isomaltose due to a deficiency or absence of the sucrase-isomaltase enzyme in the small intestine. This leads to malabsorption of these disaccharides, causing gastrointestinal symptoms.

Apply this code for patients diagnosed with congenital or acquired sucrase-isomaltase deficiency, often presenting with chronic diarrhea, abdominal pain, bloating, and gas after consuming sucrose-containing foods. Documentation should clearly state the diagnosis, typically confirmed by disaccharidase assays or genetic testing.

• Differentiate from other carbohydrate malabsorption disorders; this code is specific to sucrose and isomaltose.
• Consider sequencing this code as the primary diagnosis when it is the reason for the encounter, especially for dietary management or diagnostic workup.
• Ensure documentation specifies "deficiency" rather than just "intolerance" if the enzymatic defect is confirmed.