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cerebrofaciothoracale dysplasie (aandoening)
cerebrofaciothoracale dysplasie
syndroom van Pascual-Castroviejo type 1
Cerebro-facio-thoracic dysplasia
Pascual Castroviejo syndrome type 1
A rare syndrome with characteristics of facial dysmorphism, intellectual deficit and costovertebral abnormalities. To date, 13 cases have been reported in the literature. Dysmorphic features include brachycephaly, hypertelorism, broad nasal bridge, large philtrum, triangular-shaped mouth and micrognathia. There is often synophrys and a low hairline on the back. Costovertebral abnormalities are always present: short, bifid or fused ribs, bony bridges joining the posterior arches in some ribs, hemi vertebrae. Intellectual deficit is constant but the severity varies and patients also have cerebral abnormalities: cortical atrophy, hypoplasia of the corpus callosum and cerebellar vermis.
Id720635002
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van wervel
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitebotstructuur van costa
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.5
RuleTRUE
AdviceALWAYS Q87.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified