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congenitaal defect in glycosylering type Iw (aandoening)
congenitaal defect in glycosylering type Iw
CDG-syndroom type Iw
Congenital disorder of glycosylation type 1w
Congenital disorder of glycosylation type Iw
STT3A-CDG (congenital disorder of glycosylation)
STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3).
Id733111000
StatusPrimitive
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map370921
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