Autosomal recessive hereditary disorder	Congenital disease	Congenital neurological disorder	Hereditary disorder of nervous system	Hereditary metabolic disease	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 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.
	syndroom van leukencefalopathie, malformatie van thalamus en hersenstam en hoog lactaatgehalte

Id	763366000
Status	Primitive

Finding site	Cerebral white matter structure
Occurrence	Congenital

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	G93.4
Rule	TRUE
Advice	ALWAYS G93.4 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q04.9
Rule	TRUE
Advice	ALWAYS Q04.9
Correlation	SNOMED CT source code to target map code correlation not specified

Target	E88.8
Rule	TRUE
Advice	ALWAYS E88.8
Correlation	SNOMED CT source code to target map code correlation not specified