Preferred Label : Mucopolysaccharidosis type 7;
ICD-11 definition : Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease
belonging to the group of mucopolysaccharidoses. Clinical signs are extremely variable:
there are prenatal forms with non-immune hydrops fetalis, and severe neonatal forms
with dysmorphism, hernias, hepatosplenomegaly, club feet, dysostosis, severe hypotonia
and neurological disorders that ultimately lead to profound intellectual deficit and
small stature in patients that survive. Finally, there are also very mild cases that
are discovered during adolescence or adulthood following presentation with thoracic
kyphosis.;
ICD-11 synonym : Sly disease; Sly syndrome; Beta-glucuronidase deficiency;
Origin ID : 1563668250;
UMLS CUI : C0085132;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease
belonging to the group of mucopolysaccharidoses. Clinical signs are extremely variable:
there are prenatal forms with non-immune hydrops fetalis, and severe neonatal forms
with dysmorphism, hernias, hepatosplenomegaly, club feet, dysostosis, severe hypotonia
and neurological disorders that ultimately lead to profound intellectual deficit and
small stature in patients that survive. Finally, there are also very mild cases that
are discovered during adolescence or adulthood following presentation with thoracic
kyphosis.
