Autosomal recessive hereditary disorder
Congenital disease
Hereditary disorder of nervous system
Leukoencephalopathy
Mitochondrial cytopathy
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Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder)
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 is characterized by 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.
Id763366000
StatusPrimitive
Finding siteCerebral white matter structure
OccurrenceCongenital
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG93.4
TermEncefalopathie, niet gespecificeerd
TargetQ04.9
TermCongenitale misvorming van hersenen, niet gespecificeerd
TargetE88.8
TermOverige gespecificeerde stofwisselingsstoornissen
SNOMED CT to ICD-10 extended map
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified