ICD-11 classes
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2E — Syndromes with structural anomalies due to inborn errors of...
5C56.3 — Mucopolysaccharidosis
5C56.31 — Mucopolysaccharidosis type 2

ICD-11 5C56.31 — Mucopolysaccharidosis type 2

Mucopolysaccharidosis type 2 (MPS 2) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses. The clinical picture ranges from severe (the most frequent form) with early psychomotor regression, facial dysmorphism (macroglossia, constantly opened mouth, coarse features), hepatosplenomegaly, limited joint motion, carpal tunnel syndrome, dysostosis multiplex, small size, behavioural disorders and psychomotor regression leading to intellectual deficit, deafness, cardiac and respiratory disorders, and cutaneous signs, to mild (normal intelligence, milder dysmorphism and dysostoses).

The diagnosis excludes nothing.

It has no clarifying diagnoses.

The diagnosis is coded elsewhere:

• Mucopolysaccharidosis #4889
• Cutaneous mucinosis #15878
• Genetic and developmental disorders affecting the skin #15936
• Conditions with disorders of intellectual development as a relevant clinical feature #23735