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syndroom van leukencefalopathie, malformatie van thalamus en hersenstam en hoog lactaatgehalte (aandoening)
syndroom van leukencefalopathie, malformatie van thalamus en hersenstam en hoog lactaatgehalte
Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome
COXPD12 - combined oxidative phosphorylation defect type 12
Combined oxidative phosphorylation defect type 12
A rare genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (including extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form has characteristics of delayed psychomotor development, seizures, early-onset hypotonia and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age and temporary high lactate levels, with overall clinical improvement from the second year onward. The disease is caused by homozygous or compound heterozygous mutation in the EARS2 gene on chromosome 16p.
Id763366000
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetG93.4
RuleTRUE
AdviceALWAYS G93.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ04.9
RuleTRUE
AdviceALWAYS Q04.9
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8
CorrelationSNOMED CT source code to target map code correlation not specified