||||||||||||
syndroom van camptodactylie, grote gestalte, scoliose en gehoorverlies (aandoening)
syndroom van camptodactylie, grote gestalte, scoliose en gehoorverlies
CATSHL-syndroom
Camptodactyly and tall stature with scoliosis and hearing loss syndrome
CATSHL (camptodactyly, tall stature, scoliosis, hearing loss) syndrome
This syndrome has characteristics of camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.
Id720601000
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Interpretsgehoorfunctie
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.2
RuleTRUE
AdviceALWAYS Q87.2
CorrelationSNOMED CT source code to target map code correlation not specified