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syndroom van camptodactylie met gewrichtscontractuur, aangezichtsafwijking en skeletdefect (aandoening)
syndroom van camptodactylie met gewrichtscontractuur, aangezichtsafwijking en skeletdefect
syndroom van camptodactylie met gewrichtscontractuur, aangezichtsanomalie en malformatie van skelet
syndroom van Rozin-Hertz-Goodman
Rozin-Hertz-Goodman-syndroom
Rozin-camptodactyliesyndroom
Rozin Hertz Goodman syndrome
Camptodactyly with joint contracture and facial skeletal defect syndrome
Rozin camptodactyly syndrome
The association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline). Only four cases have been reported in the literature so far. The mode of inheritance remains to be confirmed, but both autosomal dominant and recessive transmission have been considered.
Id715986009
StatusPrimitive
Associated morphologycontractuur
Finding sitestructuur van gewrichtsregio
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationverlaagd
Interprets'range of motion' van gewricht
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0
CorrelationSNOMED CT source code to target map code correlation not specified