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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
A rare life-threatening neurometabolic disease with characteristics of a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.
Id791000124107
StatusPrimitive
Clinical courseprogressief
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE72.8
TermOverige gespecificeerde stofwisselingsstoornissen van aminozuren
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