|||||
aspartylglucosaminurie (aandoening)
aspartylglucosaminurie
Aspartylglucosaminuria
Aspartylglucosaminidase deficiency
Aspartylglycosaminuria
Aspartylglycosylaminase deficiency
An autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group. Clinical signs include slowly developing intellectual disability beginning with clumsiness, late speech, and hyperkinesia, mild facial dysmorphism, and slight kyphoscoliosis. Caused by mutations in gene AGU located on 4q34.3. Transmission is autosomal recessive.
Id54954004
StatusPrimitive
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE77.1
TermOnvolledige glycoproteïneafbraak
SNOMED CT to Orphanet simple map93
SNOMED CT to ICD-10 extended map
TargetE77.1
RuleTRUE
AdviceALWAYS E77.1
CorrelationSNOMED CT source code to target map code correlation not specified