Learn about SMART Syndrome diagnosis, including clinical documentation requirements, medical coding guidelines, and healthcare implications. Find information on SMART Syndrome symptoms, genetic testing, and treatment options. Understand the importance of accurate medical coding for SMART Syndrome and explore resources for healthcare professionals related to this rare genetic disorder. This resource covers differential diagnosis, clinical features, and best practices for documenting SMART Syndrome in patient records.
Also known as
Other specified congenital malformations
This code captures congenital anomalies not classified elsewhere.
Chromosomal abnormalities
This range encompasses various chromosomal disorders, some of which may be related to SMART.
Severe combined immunodeficiency
Includes combined immune deficiencies, which could be a component or comorbidity.
Follow this step-by-step guide to choose the correct ICD-10 code.
Is the diagnosis confirmed SMART Syndrome?
Yes
Is there smooth muscle involvement?
No
Do not code SMART Syndrome. Code the presenting symptoms/conditions.
When to use each related code
Description |
---|
Small for gestational age plus features of Russel-Silver, but no 11p15 abnormality |
Russel-Silver Syndrome |
Intrauterine growth restriction (IUGR) |
Coding SMART Syndrome without specifying laterality (right, left, bilateral) can lead to claim denials and inaccurate data reporting. Use appropriate laterality codes.
Incomplete documentation of SMART Syndrome manifestations (e.g., syndactyly, telecanthus, anogenital anomalies) may impact accurate code assignment and reimbursement.
Discrepancies between physician notes and other clinical data regarding SMART Syndrome diagnosis can create coding errors and compliance issues.
Patient presents with clinical findings consistent with a diagnosis of SMART Syndrome (Stromal interaction molecule 1 receptor-associated syndrome), a rare genetic disorder. Symptoms noted include cutaneous syndactyly, involving the 3rd and 4th fingers, camptodactyly, and tufting of the distal phalanges. Patient also exhibits craniofacial dysmorphism, notably midface hypoplasia and a broad nasal bridge. Musculoskeletal abnormalities, including short stature and brachydactyly, are also present. Genetic testing confirms a heterozygous pathogenic variant in the ESR1 gene, confirming the SMART Syndrome diagnosis. Differential diagnosis included other syndromic brachydactylies, such as Apert syndrome and Pfeiffer syndrome. These were ruled out based on genetic testing and the distinct constellation of clinical features. Management will focus on symptomatic treatment and supportive care, addressing the specific needs of the patient related to their physical limitations. Referral to specialists, including orthopedics, genetics, and craniofacial specialists, is indicated for comprehensive evaluation and long-term management. Prognosis is variable and dependent on the severity of the individual patient's clinical manifestations. Genetic counseling is recommended for the family to discuss the inheritance pattern and recurrence risk. Ongoing monitoring for potential complications, such as joint contractures and developmental delays, will be essential.