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2-methyl-3-hydroxybutaanzuuracidurie (aandoening)
2-methyl-3-hydroxybutaanzuuracidurie
MHBD-deficiëntie
HSD10-ziekte
2-methyl-3-hydroxybutyryl-CoA-dehydrogenasedeficiëntie
2-methyl-3-hydroxybutyric aciduria
HSD10 disease
HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.
Id791000124107
StatusPrimitive
Clinical courseprogressief
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map391417
SNOMED CT to ICD-10 extended map
TargetE72.8
RuleTRUE
AdviceALWAYS E72.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified