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syndroom van foveale hypoplasie, decussatiedefect van nervus opticus en congenitale afwijking van voorste oogsegment (aandoening)
syndroom van foveale hypoplasie, decussatiedefect van nervus opticus en congenitale afwijking van voorste oogsegment
FHONDA-syndroom
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
FHONDA (foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis) syndrome
FHONDA syndrome
A rare genetic eye disease with characteristics of foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism. Patients present congenital nystagmus, decreased visual acuity, refractive errors and occasionally strabismus. Microphthalmia and retinochoroidal coloboma may also be associated. There is the disease is caused by homozygous or compound heterozygous mutation in the SLC38A8 gene on chromosome 16q23.
Id782754006
StatusPrimitive
Associated morphologyhypoplasie
Finding sitestructuur van fovea centralis
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ15.8
RuleTRUE
AdviceALWAYS Q15.8
CorrelationSNOMED CT source code to target map code correlation not specified