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fosfoglucomutase-3-gerelateerd congenitaal defect in glycosylering (aandoening)
fosfoglucomutase-3-gerelateerd congenitaal defect in glycosylering
PGM3-CDG
PGM3-gerelateerd congenitaal defect in glycosylering
gecombineerde immunodeficiëntie door PGM3-deficiëntie
Phosphoglucomutase 3-related congenital disorder of glycosylation
Combined immunodeficiency due to PGM3 (phosphoglucomutase 3) deficiency
PGM3-related congenital disorder of glycosylation
PGM3-CDG - phosphoglucomutase 3-related congenital disorder of glycosylation
A rare congenital disorder of glycosylation caused by mutations in the PGM3 gene with characteristics of neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses and marked serum immunoglobulin E elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.
Id1187623009
StatusPrimitive
Occurrencecongenitaal
Pathological processafwijkend immuunproces
SNOMED CT to Orphanet simple map443811
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