Autosomal recessive hereditary disorder	Central nervous system complication	Congenital hearing disorder	Disorder of ear	Hearing loss associated with syndrome	Hereditary disorder of musculoskeletal system	Hereditary disorder of nervous system	Hereditary hearing loss	Mitochondrial encephalomyopathy	Myoneural disorder	Peripheral neuropathy due to metabolic disorder	Secondary myopathy
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Deafness, encephaloneuropathy, obesity, valvulopathy syndrome (disorder)
	Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
	Hearing loss, encephaloneuropathy, obesity, valvulopathy syndrome
	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.

Id	763688008
Status	Primitive

Due to

Coenzyme Q10 deficiency

Finding site	Ear structure
Occurrence	Congenital

Finding site	Peripheral nerve structure
Occurrence	Congenital

Finding site	Skeletal muscle structure
Occurrence	Congenital

Finding site	Brain structure
Occurrence	Congenital

Interprets

SNOMED CT to Orphanet simple map

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	E88.8
Term	Overige gespecificeerde stofwisselingsstoornissen

SNOMED CT to ICD-10 extended map

Target	E88.8
Rule	TRUE
Advice	ALWAYS E88.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified