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syndroom van afonie, doofheid, retinadystrofie, bifide hallux en verstandelijke beperking (aandoening)
syndroom van afonie, doofheid, retinadystrofie, bifide hallux en verstandelijke beperking
syndroom van afonie, doofheid, retinadystrofie, bifide hallux en verstandelijke handicap
syndroom van afonie, doofheid, retinadystrofie, bifide hallux en mentale retardatie
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
Aphonia, hearing loss, retinal dystrophy, duplicated halluces, intellectual disability syndrome
Aphonia, deafness, retinal dystrophy, duplicated halluces, intellectual disability syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (including thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated.
Id773583007
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van retina
Occurrencecongenitaal
Interpretsgehoorfunctie
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified