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multipele epifysaire dysplasie type Al-Gazali (aandoening)
multipele epifysaire dysplasie type Al-Gazali
meervoudige epifysaire dysplasie type Al-Gazali
syndroom van meervoudige epifysaire dysplasie, macrocefalie en typisch aangezicht
Multiple epiphyseal dysplasia Al-Gazali type
Multiple epiphyseal dysplasia and macrocephaly with distinctive facies syndrome
A skeletal dysplasia with characteristics of multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism. It has been described in 4 children from one Omani family. Dysmorphic features consist of macrocephaly with frontal bossing, hypertelorism, flat malar region, low-set ears and short neck. The disease gene has been mapped to the telomeric region of the long arm of chromosome 15. The condition is transmitted in an autosomal recessive manner.
Id719688002
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van epiphysis
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
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