Hearing loss associated with syndrome
Lactic acidosis
Mitochondrial myopathy
Sensorineural hearing loss
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Mitochondrial myopathy, lactic acidosis, deafness syndrome (disorder)
Mitochondrial myopathy, lactic acidosis, deafness syndrome
Mitochondrial myopathy, lactic acidosis, hearing loss syndrome
A type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.
syndroom van mitochondriale myopathie, lactaatacidose en doofheid
Id732951005
StatusPrimitive
Finding siteStructure of auditory system
Finding siteSkeletal muscle structure
Has interpretationImpaired
InterpretsHearing
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG71.3
RuleTRUE
AdviceALWAYS G71.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE87.2
RuleTRUE
AdviceALWAYS E87.2
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH90.5
RuleTRUE
AdviceALWAYS H90.5
CorrelationSNOMED CT source code to target map code correlation not specified