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deficiëntie van lange-keten-3-hydroxyacyl-co-enzym A-dehydrogenase (aandoening)
deficiëntie van lange-keten-3-hydroxyacyl-co-enzym A-dehydrogenase
lange-keten-3-hydroxyacyl-co-enzym-A-dehydrogenasedeficiëntie
lange-keten-3-hydroxyacyl-CoA-dehydrogenasedeficiëntie
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
LCHADD - long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
A mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy or early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy. Caused by the isolated deficiency of long chain 3-hydroxyacyl-CoA dehydrogenase, an enzyme of the mitochondrial trifunctional protein complex (TFP). TFP is a heterooctamer of 4 alpha and 4 beta subunits. The disease is due to mutations in the HADHA gene (2p23) that encodes for the alpha subunit of TFP. Mitochondrial trifunctional protein deficiency is clinically indistinguishable from this disease.
Id726021008
StatusPrimitive
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetE71.3
RuleTRUE
AdviceALWAYS E71.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified