Autosomal recessive hereditary disorder	Congenital anomaly of anterior segment of eye	Congenital anomaly of cerebrum	Congenital hypoplasia of fovea centralis	Developmental hereditary disorder	Hereditary disorder of nervous system	Hereditary disorder of the visual system	Optic chiasm disorder
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Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder)
	Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
	FHONDA syndrome FHONDA (foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis) 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.
	syndroom van foveale hypoplasie, decussatiedefect van nervus opticus en congenitale afwijking van voorste oogsegment
	FHONDA-syndroom

Id	782754006
Status	Primitive

Associated morphology	Morphologically abnormal structure
Finding site	Anterior eyeball segment structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Hypoplasia
Finding site	Structure of fovea centralis
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Morphologically abnormal structure
Finding site	Structure of optic chiasma
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q15.8
Rule	TRUE
Advice	ALWAYS Q15.8
Correlation	SNOMED CT source code to target map code correlation not specified