Autosomal recessive hereditary disorder
Congenital neurological disorder
Disorder of skeletal system
Hereditary disorder of musculoskeletal system
Inherited metabolic disorder of nervous system
Oligosaccharidosis
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Aspartylglucosaminuria (disorder)
Aspartylglucosaminuria
Aspartylglucosaminidase deficiency
Aspartylglycosaminuria
Aspartylglycosylaminase deficiency
An autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group. Clinical signs include slowly developing mental retardation, mild facial dysmorphism, and slight kyphoscoliosis. Caused by mutations in gene AGU located on 4q34.3. Transmission is autosomal recessive.
aspartylglucosaminurie
Id54954004
StatusPrimitive
OccurrenceCongenital
Finding siteStructure of nervous system
Finding siteSkeletal system structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetE77.1
RuleTRUE
AdviceALWAYS E77.1
CorrelationSNOMED CT source code to target map code correlation not specified