Autosomal recessive hereditary disorder	Chronic brain syndrome	Degenerative brain disorder	Disorder characterized by edema	Disorder of extremity	Disorder of face	Edema of extremity	Edema of face	Hereditary degenerative disease of central nervous system	Seizure disorder
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Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome (disorder)
	Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome
	PEHOL (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like) syndrome PEHO-like syndrome
	A rare genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated. There is evidence the disease is caused by homozygous mutation in the CCDC88A gene on chromosome 2p16.
	syndroom van progressieve encefalopathie, oedeem, hypsaritmie en optische atrofie

Id	770678005
Status	Primitive

Associated morphology	Degenerative abnormality
Finding site	Brain tissue structure

Clinical course

Associated morphology	Edema
Finding site	Limb structure

Associated morphology	Edema
Finding site	Face structure

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	G31.8
Rule	TRUE
Advice	ALWAYS G31.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified