Autosomal hereditary disorder	Chronic brain syndrome	Degenerative brain disorder	Hereditary degenerative disease of central nervous system	Hereditary lymphedema	Inherited optic neuropathy	Second cranial nerve finding	Seizure disorder
\|	\|	\|	\|	\|	\|	\|	\|

Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome (disorder)
	Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
	PEHO (progressive encephalopathy with edema, hypsarrhythmia and optic atrophy) syndrome PEHO syndrome
	A rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies. Onset occurs during the first few weeks or months of life with hypotonia, poor feeding, drowsiness and abnormal movements. Infantile spasms, hypsarrhythmia and seizures appear during the first year of life. Visual loss, abnormal eye movements and optic atrophy also occur during infancy. Transmission appears to be autosomal recessive. A significant number of patients have been described who displayed most of the diagnostic criteria and features of PEHO syndrome, but did not appear to have cerebral atrophy on MRI, lacked the ophthalmologic signs and showed no reduction in CSF IGF-1 levels. This group of patients was diagnosed with PEHO-like syndrome. The prognosis is poor and most patients die before 15 years of age, mainly as a result of pneumonia or aspiration.
	syndroom van progressieve encefalopathie, oedeem, hypsaritmie en opticusatrofie
	PEHO

Id	442511009
Status	Primitive

Associated morphology	Lymphatic edema
Finding site	Limb structure
Pathological process	Pathological developmental process

Associated morphology	Degenerative abnormality
Finding site	Brain tissue structure

Clinical course

Finding site

Optic nerve structure

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	G31.8
Rule	TRUE
Advice	ALWAYS G31.8
Correlation	SNOMED CT source code to target map code correlation not specified