Short answer · Medically reviewed summary · Last updated: 2026-05-08
Congenital Sucrase-Isomaltase Deficiency (CSID) is classified under the ICD-10-CM code E74.39 (Other disorders of carbohydrate absorption). While the ICD-9-CM system is largely retired in clinical practice, CSID was historically coded under 271.3 (Intestinal disaccharidase deficiencies). What is the clinical significance of the CSID diagnostic codes? The use of specific ICD-10 coding for Congenital Sucrase-Isomaltase Deficiency is vital for ensuring patients receive appropriate medical coverage for diagnostic testing and specialized dietary management.
1 people with Congenital Sucrase Isomaltase Deficiency have shared their first-person experience on this question at DiseaseMaps.
ICD10 code of Congenital Sucrase Isomaltase Deficiency and ICD9 code
ICD-10 and ICD-9 codes for Congenital Sucrase Isomaltase Deficiency, with classification details for clinicians, coders and patients.
Congenital Sucrase-Isomaltase Deficiency (CSID) is classified under the ICD-10-CM code E74.39 (Other disorders of carbohydrate absorption). While the ICD-9-CM system is largely retired in clinical practice, CSID was historically coded under 271.3 (Intestinal disaccharidase deficiencies).
What is the clinical significance of the CSID diagnostic codes?
The use of specific ICD-10 coding for Congenital Sucrase-Isomaltase Deficiency is vital for ensuring patients receive appropriate medical coverage for diagnostic testing and specialized dietary management. Because Congenital Sucrase-Isomaltase Deficiency is a rare genetic disorder characterized by a lack of the enzymes sucrase and isomaltase, accurate coding helps physicians track the long-term management of gastrointestinal symptoms, such as chronic diarrhea and abdominal bloating, which often mimic other conditions like Irritable Bowel Syndrome.
How is Congenital Sucrase-Isomaltase Deficiency diagnosed?
Diagnosis of Congenital Sucrase-Isomaltase Deficiency typically involves a combination of clinical assessment and specific testing. Because 140 members of the DiseaseMaps community have shared their experiences, we know that many patients face a long diagnostic journey. Common diagnostic approaches include:
- Disaccharidase assay: A small intestinal biopsy to measure enzyme activity levels directly.
- Genetic testing: Identifying pathogenic variants in the SI gene, which confirms the autosomal recessive inheritance pattern of Congenital Sucrase-Isomaltase Deficiency.
- Breath hydrogen testing: Measuring hydrogen levels after sucrose ingestion, though this is less definitive than a biopsy.
Is Congenital Sucrase-Isomaltase Deficiency hereditary?
Yes, Congenital Sucrase-Isomaltase Deficiency is an autosomal recessive disorder. This means that for a child to be born with the condition, they must inherit one mutated copy of the SI gene from each carrier parent. Genetic counseling is highly recommended for families navigating a diagnosis of Congenital Sucrase-Isomaltase Deficiency to understand recurrence risks and carrier status.
Next steps
- Consult with a pediatric or adult gastroenterologist to confirm your diagnosis using the E74.39 code.
- Work with a registered dietitian specializing in disaccharidase deficiencies to manage sucrose and starch intake.
- Connect with the 140 members of the Congenital Sucrase-Isomaltase Deficiency community on DiseaseMaps.org to share management strategies.
Medical disclaimer: This information is for educational purposes only and should not replace professional medical advice, diagnosis, or treatment.
References
- NIH GARD: Congenital Sucrase-Isomaltase Deficiency (GARD ID 6185).
- Orphanet: Congenital Sucrase-Isomaltase Deficiency (ORPHA:3195).
- OMIM: Sucrase-Isomaltase Deficiency (OMIM #222900).
- ICD-10-CM Browser: E74.39 - Other disorders of carbohydrate absorption.
Posted Nov 15, 2021 by Tracey 3000
