Preferred Label : Aspartylglucosaminuria;
ICD-11 definition : Aspartylglycosaminuria is an autosomal recessive lysosomal storage disease belonging
to the oligosaccharidosis group that is due to deficiency in N-aspartylglycosaminidase.
Clinical signs include slowly developping intellectual deficit, beginning with clumsiness,
late speech, and hyperkinesia, mild facial dysmorphism, and slight kyphoscoliosis.;
ICD-11 synonym : Aspartylglucosaminidase deficiency;
Origin ID : 2143470200;
Currated CISMeF NLP mapping
- Validated automatic mappings to NTBT
Aspartylglycosaminuria is an autosomal recessive lysosomal storage disease belonging
to the oligosaccharidosis group that is due to deficiency in N-aspartylglycosaminidase.
Clinical signs include slowly developping intellectual deficit, beginning with clumsiness,
late speech, and hyperkinesia, mild facial dysmorphism, and slight kyphoscoliosis.
