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congenitaal defect in deglycosylering door N-glycanase 1 (aandoening)
congenitaal defect in deglycosylering door N-glycanase 1
NGLY1-congenital disorder of deglycosylation
Alacrimia, choreoathetosis, liver dysfunction syndrome
Deficiency of N-glycanase 1
N-glycanase 1 congenital disorder of deglycosylation
A rare, genetic, inborn error of metabolism disorder characterized by global developmental delay, hypotonia, choreoathetosis, hypo-/alacrimia, and liver dysfunction which manifests with elevated liver transaminases and hepatocyte cytoplasmic storage material or vacuolization on liver biopsy. Additional features reported include acquired microcephaly, hypo-/areflexia, seizures, peripheral neuropathy, intellectual and language/speech disability, additional ocular anomalies and EEG and brain imaging abnormalities.
Id768846004
StatusPrimitive
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE77.8
TermOverige gespecificeerde stoornissen van glycoproteïnemetabolisme
SNOMED CT to Orphanet simple map404454
SNOMED CT to ICD-10 extended map
TargetE77.8
RuleTRUE
AdviceALWAYS E77.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified