Preferred Label : Free sialic acid storage disease;
ICD-11 definition : Free Sialic Acid Storage Disease (SSD) or Salla disease is a lysosomal storage disease
with a variable clinical presentation, with severe forms (Infantile Sialic Acid Storage
Disease) present in utero(with fetal hydrops and ascites) or at birth (with hypotonia,
hepatosplenomegaly, ascites, coarse facies, bone malformations, severe motor disorders,
intellectual deficit, and seizures). Individuals with the moderate form (initially
described as Salla disease) present with hypotonia that may progress to include spasticity,
ataxia, psychomotor retardation, and profound intellectual deficit.;
ICD-11 synonym : Salla disease; Finnish type sialuria;
Origin ID : 1817428569;
Automatic exact mappings (from CISMeF team)
Free Sialic Acid Storage Disease (SSD) or Salla disease is a lysosomal storage disease
with a variable clinical presentation, with severe forms (Infantile Sialic Acid Storage
Disease) present in utero(with fetal hydrops and ascites) or at birth (with hypotonia,
hepatosplenomegaly, ascites, coarse facies, bone malformations, severe motor disorders,
intellectual deficit, and seizures). Individuals with the moderate form (initially
described as Salla disease) present with hypotonia that may progress to include spasticity,
ataxia, psychomotor retardation, and profound intellectual deficit.
