oculocerebrale dysplasie (aandoening) DEPRECATED
oculocerebrale dysplasie
Oculocerebral dysplasia syndrome
Behrens Baumann Vogel syndrome
Microphthalmia and optic nerve aplasia
Oculocerebral dysplasia combines bilateral microphthalmia (or the association of microphthalmia and cryptophthalmus) and unilateral optic nerve aplasia. Two cases have been reported, a girl and her brother. A Dandy-Walker cyst was also present in one case. Transmission appears to be autosomal recessive.
Id716172002
StatusPrimitive
Concept inactivation indicator reference set900000000000484002 | ambigu component | (2020-01-31)
POSSIBLY EQUIVALENT TO association reference set
95499004 | hypoplasie van nervus opticus | (2020-01-31)
722989007 | aplasie van nervus opticus | (2020-01-31)