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multipele epifysaire dysplasie type Beighton (aandoening)
multipele epifysaire dysplasie type Beighton
meervoudige epifysaire dysplasie type Beighton
syndroom van meervoudige epifysaire dysplasie, myopie en doofheid
Multiple epiphyseal dysplasia Beighton type
Multiple epiphyseal dysplasia with myopia and deafness syndrome
A skeletal dysplasia with characteristics of epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness and stubby digits. It has been described in one family in which the mother and three of her four children were affected. The condition is caused by a mutation in the COL2A1 gene (12q13.11-q13.2) and is transmitted in an autosomal dominant manner.
Id719689005
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van epiphysis
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
Associated morphologymorfologische afwijking
Finding sitestructuur van auris
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationverlaagd
Interpretsgehoorfunctie
referentieset met complexe 'mapping' naar ICD-10
TargetQ77.3
RuleTRUE
AdviceALWAYS Q77.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified