ICD-11 classes
14 Diseases of the skin
Metabolic and nutritional disorders affecting the skin
EB90 — Dermatoses resulting from disturbed metabolic processes
EB90.1 — Cutaneous mucinosis
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).
It includes 1 item.
- Hunter syndrome
The diagnosis excludes nothing.
It has no clarifying diagnoses.
The diagnosis is coded elsewhere: