ICD-11 classes
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C56 — Lysosomal diseases
5C56.3 — Mucopolysaccharidosis
5C56.30 — Mucopolysaccharidosis type 1
ICD-11 5C56.30 — Mucopolysaccharidosis type 1
Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome (57% of cases) being the most severe, Scheie syndrome (20% of cases) the mildest and Hurler-Scheie syndrome (23% of cases) giving an intermediate phenotype.
The diagnosis includes nothing.
The diagnosis excludes nothing.
It has no clarifying diagnoses.
The diagnosis is coded elsewhere: