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syndroom van congenitaal cataract, progressieve spierhypotonie, gehoorverlies en ontwikkelingsachterstand (aandoening)
syndroom van congenitaal cataract, progressieve spierhypotonie, gehoorverlies en ontwikkelingsachterstand
syndroom van congenitaal cataract, progressieve spierhypotonie, gehoorverlies en vertraging in ontwikkeling
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
Congenital cataract, progressive muscular hypotonia, deafness, developmental delay syndrome
A rare genetic mitochondrial myopathy disorder with characteristics of congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity. Can be caused by mutations in the GFER gene.
Id773398005
StatusPrimitive
Associated morphologytroebeling
Finding sitestructuur van lens cristallina
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Interpretsspiertonus
Interpretsgehoorfunctie
referentieset met complexe 'mapping' naar ICD-10
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