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congenitaal defect in glycosylering bij fosfoglucomutase 1 (aandoening)
congenitaal defect in glycosylering bij fosfoglucomutase 1
fosfoglucomutase 1-gerelateerd CDG
PGM1-related congenital disorder of glycosylation
Phosphoglucomutase-1 deficiency
Congenital disorder of glycosylation type It
Congenital disorder of glycosylation type 1t
Phosphoglucomutase 1-related congenital disorder of glycosylation
PGM1-CDG - Phosphoglucomutase 1-related congenital disorder of glycosylation
A rare genetic congenital disorder of glycosylation and glycogen storage disease with characteristics of a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity. Less common manifestations include malignant hyperthermia, rhabdomyolysis, and hypogonadotropic hypogonadism with delayed puberty. Caused by homozygous or compound heterozygous mutation in the PGM1 gene on chromosome 1p31.
Id783717008
StatusPrimitive
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
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