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oculoauriculovertebraal spectrum (aandoening)
oculoauriculovertebraal spectrum
OAV-spectrum
Oculo-auriculo-vertebral spectrum
Oculoauriculovertebral spectrum
OAV (oculo-auriculo-vertebral) spectrum
A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated. The phenotypic spectrum ranges from isolated mild facial asymmetry to severe bilateral craniofacial microsomia and additional multiple extracranial abnormalities. Intelligence is typically normal. The etiology is poorly understood but is suspected to be heterogeneous and multifactorial. The gene MYT1 (20q13.33) has been implicated in a few rare cases, and chromosomal abnormalities have been associated with some of the congenital malformations associated with this condition. The condition usually occurs sporadically, but autosomal dominant inheritance has been reported.
Id1010685005
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur van cranium
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypoplasie
Finding sitestructuur van bot van aangezicht
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified