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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
Congenital disorder of glycosylation type 1t
Phosphoglucomutase 1-related congenital disorder of glycosylation
PGM1-CDG - Phosphoglucomutase 1-related congenital disorder of glycosylation
Phosphoglucomutase-1 deficiency
Congenital disorder of glycosylation type It
A rare, genetic, congenital disorder of glycosylation and glycogen storage disease characterized by 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.
Id783717008
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 map319646
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