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

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