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hyperammoniëmische encefalopathie door koolzuuranhydrase VA-deficiëntie (aandoening)
hyperammoniëmische encefalopathie door koolzuuranhydrase VA-deficiëntie
encefalopathie met hyperammoniëmie door deficiëntie van carboanhydrase-VA
hyperammoniëmische encefalopathie door CA-VA-deficiëntie
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Carbonic anhydrase VA deficiency
CA-VA (carbonic anhydrase VA) deficiency
Inherited disorder characterized by episodes of metabolic crisis and acute encephalopathy. Life-threatening episodes manifest with poor feeding, vomiting, weight loss, lethargy, tachypnea, seizures or coma and are caused by hyperammonemia, metabolic acidosis, respiratory alkalosis, hypoglycemia and reduced production of bicarbonate in the liver. Caused by mutations in the CA5A gene resulting in absent or impaired carbonic anhydrase VA enzyme function leading to reduced bicarbonate production. Inherited in an autosomal recessive pattern.
Id764456001
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetE74.8
RuleTRUE
AdviceALWAYS E74.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified