E76.22
BillableSanfilippo mucopolysaccharidoses
HCC Category Mapping
V28HCC 49 — Lysosomal Storage Disorders
0.226V24HCC 23 — Other Significant Endocrine and Metabolic Disorders
0.230ESRDHCC 23 — Other Significant Endocrine and Metabolic Disorders
0.000RxHCCHCC 41 — Lysosomal Storage Disorders
0.000What This Code Means
Sanfilippo mucopolysaccharidosis is a rare inherited metabolic disorder characterized by severe neurological deterioration, behavioral problems, and progressive dementia in childhood.
Coding Tips
- •Sanfilippo syndrome has four subtypes (A, B, C, D) based on different enzyme deficiencies; document the specific type if known
- •Document neuropsychiatric symptoms, developmental regression, and behavioral changes as these are hallmark features
Clinical Significance
Sanfilippo mucopolysaccharidosis (MPS III) is characterized by severe progressive neurodegeneration with relatively mild somatic features, making it distinct from other MPS types. The four subtypes (A-D) involve different enzyme deficiencies but share a clinical picture of behavioral disturbances, sleep disorders, cognitive decline, and shortened lifespan, with onset typically in early childhood.
Documentation Requirements
- ✓Specific diagnosis of Sanfilippo syndrome or MPS III documented
- ✓Subtype if known (A, B, C, or D) though all map to the same code
- ✓Confirmatory enzyme assay or genetic testing results
- ✓Neurological and behavioral assessment: hyperactivity, aggression, sleep disturbance, cognitive regression
- ✓Current functional status and care needs
- ✓Treatment plan including behavioral management, seizure control, and supportive care
Commonly Confused Codes
E76.01 — Hurler syndrome (MPS I-H): has similar neurological decline but with prominent somatic featuresE76.1 — Hunter syndrome (MPS II): may have neurological involvement but also hepatosplenomegaly and coarse featuresF84.0 — Autistic disorder: behavioral symptoms of Sanfilippo may initially mimic autismG31.89 — Other degenerative diseases of nervous system: Sanfilippo is metabolic, not a primary neurodegenerative disorderE76.29 — Other mucopolysaccharidoses: for MPS types other than specifically coded ones
Code Hierarchy
└E76Disorders of glycosaminoglycan metabolism└E76.2Other mucopolysaccharidoses└E76.22Sanfilippo mucopolysaccharidoses
└E76.22Sanfilippo mucopolysaccharidoses