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syndroom van doofheid, epifysaire dysplasie en kleine gestalte (aandoening)
syndroom van doofheid, epifysaire dysplasie en kleine gestalte
syndroom van Chitty-Hall-Baraitser
Chitty Hall Baraitser syndrome
Deafness with epiphyseal dysplasia and short stature syndrome
This syndrome has characteristics of sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit). It has been described in two brothers born to consanguineous parents. They also have dysmorphic features (triangular face, pointed chin) and bilateral obstruction of lacrimal ducts. This syndrome is transmitted as an autosomal recessive trait.
Id716238003
StatusPrimitive
Interpretsgehoorfunctie
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified