||||||||||
acropectorovertebrale dysplasie (aandoening)
acropectorovertebrale dysplasie
F-syndroom
Acropectorovertebral dysplasia
F syndrome
A skeletal dysplasia with characteristics of fusion of the carpal and tarsal bones and complex anomalies of the fingers and toes. It has been described in less than 30 patients from three unrelated families. Other manifestations include prominence of the sternum with variable pectus excavatum, lumbosacral spina bifida occulta, minor craniofacial anomalies and mild intellectual deficit. This syndrome is transmitted as an autosomal dominant trait with full penetrance. The causative gene has been mapped to chromosome region 2q36.
Id720457000
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ74.8
RuleTRUE
AdviceALWAYS Q74.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified