gehoorverlies bij syndroom
lactaatacidose
mitochondriale myopathie
perceptief gehoorverlies
||||
syndroom van mitochondriale myopathie, lactaatacidose en doofheid (aandoening)
syndroom van mitochondriale myopathie, lactaatacidose en doofheid
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.
Id732951005
StatusPrimitive
Finding sitestructuur van auditief systeem
Finding sitestructuur van skeletspier
Has interpretationgestoord
Interpretsgehoorfunctie
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG71.3
TermMitochondriën-myopathie, niet elders geclassificeerd
TargetE87.2
TermAcidose
TargetH90.5
TermGehoorverlies door perceptiestoornis, niet gespecificeerd
SNOMED CT to Orphanet simple map2597
SNOMED CT to ICD-10 extended map
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