782754006: Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Encephalopathy\Optic chiasm disorder\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Optic chiasm disorder\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of visual pathways\Optic chiasm disorder\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome

\Finding of head and neck region\Head finding\...

\Finding of brain\Encephalopathy\...

\Optic chiasm disorder\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome

\Congenital anomaly of brain\Congenital anomaly of cerebrum\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Disorder of macula of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Finding of head region\Globe finding\Retina finding\Macula finding\Disorder of macula of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Disorder of macula of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Disorder of macula of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Disorder of macula of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disorder of head\Encephalopathy\Optic chiasm disorder\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome

\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Eye / vision finding\Globe finding\Retina finding\Macula finding\Disorder of macula of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Disorder of macula of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Disorder of macula of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Disorder of macula of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Eye / vision finding\Visual system disorder\Disorder of visual pathways\Optic chiasm disorder\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Disorder of embryonic structure\Optic chiasm disorder\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Disorder of macula of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Optic chiasm disorder\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Optic chiasm disorder\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Optic chiasm disorder\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of visual pathways\Optic chiasm disorder\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Disorder of macula of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Disorder of head\Encephalopathy\Optic chiasm disorder\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Congenital anomaly of macula\Congenital hypoplasia of fovea centralis\Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3755623014 Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3755624015 Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome en Synonym Active Case insensitive SNOMED CT core

3755625019 FHONDA (foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis) syndrome en Synonym Active Case sensitive SNOMED CT core

3755626018 FHONDA syndrome en Synonym Active Case sensitive SNOMED CT core

3755627010 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. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome	Finding site	Structure of fovea centralis	true	Inferred relationship	Some	3
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome	Is a	Irido-corneal dysgenesis	false	Inferred relationship	Some
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome	Is a	Congenital anomaly of central nervous system	false	Inferred relationship	Some
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome	Is a	Optic chiasm disorder	true	Inferred relationship	Some
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome	Is a	Congenital hypoplasia of fovea centralis	true	Inferred relationship	Some
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Some	3
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome	Finding site	Anterior eyeball segment structure	true	Inferred relationship	Some	2
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome	Finding site	Structure of optic chiasma	true	Inferred relationship	Some	1
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome	Is a	Congenital anomaly of anterior segment of eye	true	Inferred relationship	Some
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome	Is a	Congenital anomaly of cerebrum	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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Id	Description	Lang	Type	Status	Case?	Module
3755623014	Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3755624015	Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3755625019	FHONDA (foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3755626018	FHONDA syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3755627010	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.	en	Definition	Active	Case sensitive	SNOMED CT core