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aspartylglucosaminurie (aandoening)
aspartylglucosaminurie
Aspartylglucosaminuria
Aspartylglycosaminuria
Aspartylglycosylaminase deficiency
Aspartylglucosaminidase 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.
Id54954004
StatusPrimitive
Occurrencecongenitaal
DHD Diagnosethesaurus-referentieset
referentieset met complexe door RIVM geautoriseerde nationale 'mapping' naar ICD-10 voor diagnosethesaurus
TargetE77.1
TermOnvolledige glycoproteïneafbraak
referentieset met complexe 'mapping' naar ICD-10
TargetE77.1
RuleTRUE
AdviceALWAYS E77.1
CorrelationSNOMED CT source code to target map code correlation not specified