Scheies sykdom
Engelsk navn: Scheie syndrome
Engelske synonym: MPS1S,MPSIS,Mucopolysaccharidosis type 1S,Mucopolysaccharidosis type IS
Definisjon
Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.
Fra Orphanet
ORPHA: 93474
Klassifiseringsnivå: Subtype of disorder
ICD-10: E76.0