Auditory system hereditary disorder
Autosomal recessive hereditary disorder
Congenital cataract
Congenital myopathy
Congenital sensorineural hearing loss
Developmental delay
Developmental hereditary disorder
Hereditary disorder of musculoskeletal system
Hereditary disorder of the visual system
Hereditary metabolic disease
Hereditary myopathy
Mitochondrial myopathy
Poor muscle tone
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Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome (disorder)
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.
syndroom van congenitaal cataract, progressieve spierhypotonie, gehoorverlies en ontwikkelingsachterstand
syndroom van congenitaal cataract, progressieve spierhypotonie, gehoorverlies en vertraging in ontwikkeling
Id773398005
StatusPrimitive
Associated morphologyOpacity
Finding siteLens clear
OccurrenceCongenital
Pathological processPathological developmental process
InterpretsMuscle tone
Finding siteSkeletal muscle structure
OccurrenceCongenital
Finding siteStructure of auditory system
OccurrenceCongenital
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