E76.02

Billable

Hurler-Scheie syndrome

HCC Category Mapping

V28HCC 49 — Lysosomal Storage Disorders

0.226

V24HCC 23 — Other Significant Endocrine and Metabolic Disorders

0.230

ESRDHCC 23 — Other Significant Endocrine and Metabolic Disorders

0.000

RxHCCHCC 41 — Lysosomal Storage Disorders

0.000

What This Code Means

An intermediate form of mucopolysaccharidosis type I with slower progression than Hurler's syndrome, causing progressive organ and skeletal damage with variable neurological involvement.

Coding Tips

•Distinguish from Hurler's syndrome (E76.01) by documenting the intermediate clinical course and age of onset
•Link to specific organ involvement such as cardiac, skeletal, or respiratory complications

Clinical Significance

Hurler-Scheie syndrome (MPS I-H/S) is an intermediate phenotype of mucopolysaccharidosis type I, with onset typically between ages 3-8 years and survival into the teens or twenties. It causes significant morbidity through joint stiffness, cardiac valve disease, and hepatosplenomegaly but generally spares cognitive function, distinguishing it from Hurler syndrome.

Documentation Requirements

✓Specific documentation of Hurler-Scheie (MPS I-H/S) intermediate phenotype
✓Confirmatory enzyme assay or IDUA gene mutation analysis
✓Current organ system involvement: cardiac, musculoskeletal, hepatic, respiratory, ophthalmologic
✓Treatment plan including enzyme replacement therapy (laronidase/Aldurazyme) or surgical interventions
✓Cognitive function status to support intermediate (not severe) phenotype classification

Commonly Confused Codes

E76.01 — Hurler syndrome: severe MPS I with cognitive impairment and death typically by age 10 without treatment E76.03 — Scheie's syndrome: mildest MPS I with normal lifespan and intelligence E76.1 — Mucopolysaccharidosis type II: Hunter syndrome, different enzyme (iduronate-2-sulfatase)E76.3 — Mucopolysaccharidosis, unspecified: avoid when specific MPS I phenotype is documented

Code Hierarchy

└E76Disorders of glycosaminoglycan metabolism └E76.0Mucopolysaccharidosis, type I └E76.02Hurler-Scheie syndrome

└E76.02Hurler-Scheie syndrome