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hereditaire butyrylcholinesterasedeficiëntie (aandoening)
hereditaire butyrylcholinesterasedeficiëntie
hereditaire deficiëntie van pseudocholinesterase
hereditair tekort van cholinesterase II
Hereditary butyrylcholinesterase deficiency
Hereditary pseudocholinesterase deficiency
A metabolic disorder characterized by prolonged apnea after the use of certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anesthetics. The duration of the prolonged apnea varies significantly depending on the extent of the enzyme deficiency. It is caused by mutations in the BCHE located on chromosome 3 (3q26.1-3q26.2) and multiple atypical variants have been identified. The condition is transmitted as an autosomal recessive trait.
Id1296959007
StatusPrimitive
Occurrencecongenitaal
SNOMED CT to ICD-10 extended map
TargetE88.0
RuleTRUE
AdviceALWAYS E88.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified