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deficiëntie van galactosemutarotase (aandoening)
deficiëntie van galactosemutarotase
GALM-deficiëntie
galactosemie type IV
galactosemie type 4
galactosemie door aldose-1-epimerasedeficiëntie
Deficiency of galactose mutarotase
GALM (galactose mutarotase) deficiency
Galactosemia type 4
A rare disorder of galactose metabolism characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase. Patients may present bilateral cataract, while gastrointestinal symptoms or severe liver dysfunction are absent. The natural history of the disease is unknown. Severe complications, such as neurological symptoms, have not been reported under early treatment with a galactose-restricted diet.
Id1187616008
StatusPrimitive
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE74.2
TermStoornissen van galactosemetabolisme
ICD-10 complex map reference set
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified