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aspartylglucosaminurie (aandoening)
aspartylglucosaminurie
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Aspartylglucosaminuria
Aspartylglucosaminidase deficiency
Aspartylglycosaminuria
Aspartylglycosylaminase deficiency
A rare oligosaccharidosis characterized by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids.
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 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified