||||
encefalopathie op kinderleeftijd door thiamine-pyrofosfokinasedeficiëntie (aandoening)
encefalopathie op kinderleeftijd door thiamine-pyrofosfokinasedeficiëntie
juveniele encefalopathie door deficiëntie van thiaminepyrofosfokinase
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Childhood encephalopathy due to thiamin pyrophosphokinase deficiency
A rare inborn error of metabolism disorder with early-onset acute encephalopathic episodes (frequently triggered by viral infections) associated with lactic acidosis and alpha-ketoglutaric aciduria which typically manifest with variable degrees of ataxia, generalized developmental regression (which deteriorates with each episode) and dystonia. Other manifestations include spasticity, seizures, truncal hypotonia, limb hypertonia, brisk tendon reflexes and reversible coma. Caused by homozygous or compound heterozygous mutation in the TPK1 gene on chromosome 7q35.
Id773668008
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetE51.8
RuleTRUE
AdviceALWAYS E51.8
CorrelationSNOMED CT source code to target map code correlation not specified
TargetG32.8
RuleTRUE
AdviceALWAYS G32.8 | THIS CODE MAY BE USED IN THE PRIMARY POSITION WHEN THE MANIFESTATION IS THE PRIMARY FOCUS OF CARE
CorrelationSNOMED CT source code to target map code correlation not specified