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syndroom van camptodactylie, hyperplasie van fibreus weefsel en skeletdysplasie (aandoening)
syndroom van camptodactylie, hyperplasie van fibreus weefsel en skeletdysplasie
camptodactylie van Goodman
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome
Goodman camptodactyly
An extremely rare chondrodysplastic malformation syndrome with the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils and a mild intellectual disability were also noted. The syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. There have been no further descriptions in the literature since 1972.
Id720600004
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.2
RuleTRUE
AdviceALWAYS Q87.2
CorrelationSNOMED CT source code to target map code correlation not specified