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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
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