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multipele carboxylasedeficiëntie (aandoening)
multipele carboxylasedeficiëntie
meervoudige carboxylasedeficiëntie
Multiple carboxylase deficiency
A group of inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. This group includes biotinidase deficiency and biotin holocarboxylase synthetase deficiency.
Id1172966001
StatusPrimitive
Occurrencecongenitaal
ICD-10 complex map reference set
TargetE53.8
RuleTRUE
AdviceALWAYS E53.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
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