778042000: Foveal hypoplasia with presenile cataract syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Presenile cataract\Foveal hypoplasia with presenile cataract 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 with presenile cataract 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 with presenile cataract 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 with presenile cataract 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 with presenile cataract syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
\Finding of head region\Disorder of eye region\Congenital nystagmus\Foveal hypoplasia with presenile cataract syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Presenile cataract\Foveal hypoplasia with presenile cataract 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 with presenile cataract 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 with presenile cataract 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 with presenile cataract syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Presenile cataract\Foveal hypoplasia with presenile cataract 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 with presenile cataract 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 with presenile cataract 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 with presenile cataract 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 with presenile cataract syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Presenile cataract\Foveal hypoplasia with presenile cataract 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 with presenile cataract 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 with presenile cataract 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 with presenile cataract 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 with presenile cataract syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
\Disorder of head\Disorder of eye region\Congenital nystagmus\Foveal hypoplasia with presenile cataract 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 with presenile cataract syndrome

\Eye / vision finding\Eye movement - finding\Nystagmus present\Nystagmus\Congenital nystagmus\Foveal hypoplasia with presenile cataract syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Presenile cataract\Foveal hypoplasia with presenile cataract 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 with presenile cataract 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 with presenile cataract 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 with presenile cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Presenile cataract\Foveal hypoplasia with presenile cataract 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 with presenile cataract 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 with presenile cataract 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 with presenile cataract 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 with presenile cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Presenile cataract\Foveal hypoplasia with presenile cataract 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 with presenile cataract 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 with presenile cataract 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 with presenile cataract 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 with presenile cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Congenital nystagmus\Foveal hypoplasia with presenile cataract syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Foveal hypoplasia with presenile cataract 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 with presenile cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye movements\Nystagmus\Congenital nystagmus\Foveal hypoplasia with presenile cataract syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Foveal hypoplasia with presenile cataract syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Foveal hypoplasia with presenile cataract syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Foveal hypoplasia with presenile cataract syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Cataract\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Foveal hypoplasia with presenile cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Presenile cataract\Foveal hypoplasia with presenile cataract 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 with presenile cataract 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 with presenile cataract 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 with presenile cataract 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 with presenile cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Congenital nystagmus\Foveal hypoplasia with presenile cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Foveal hypoplasia with presenile cataract 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 with presenile cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Nystagmus\Congenital nystagmus\Foveal hypoplasia with presenile cataract syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Presenile cataract\Foveal hypoplasia with presenile cataract 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 with presenile cataract 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 with presenile cataract 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 with presenile cataract 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 with presenile cataract syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
\Disease\Disorder of head\Disorder of eye region\Congenital nystagmus\Foveal hypoplasia with presenile cataract 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 with presenile cataract 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 with presenile cataract 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 with presenile cataract syndrome
\Disease\Congenital disease\Congenital nystagmus\Foveal hypoplasia with presenile cataract syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Foveal hypoplasia with presenile cataract 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 with presenile cataract 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 with presenile cataract syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3737478019 O'Donnell Pappas syndrome en Synonym Active Case sensitive SNOMED CT core

3737479010 Foveal hypoplasia with presenile cataract syndrome en Synonym Active Case insensitive SNOMED CT core

3737480013 Foveal hypoplasia with presenile cataract syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3737481012 A rare genetic ocular disease with characteristics of congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life) and normal irides. Corneal pannus and/or optic nerve hypoplasia may also be present. Caused by heterozygous mutation in the PAX6 gene on chromosome 11p13. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Foveal hypoplasia with presenile cataract syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Foveal hypoplasia with presenile cataract syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Foveal hypoplasia with presenile cataract syndrome	Is a	Congenital hypoplasia of fovea centralis	true	Inferred relationship	Some
Foveal hypoplasia with presenile cataract syndrome	Associated morphology	Cataract	false	Inferred relationship	Some	2
Foveal hypoplasia with presenile cataract syndrome	Is a	Congenital nystagmus	true	Inferred relationship	Some
Foveal hypoplasia with presenile cataract syndrome	Is a	Presenile cataract	true	Inferred relationship	Some
Foveal hypoplasia with presenile cataract syndrome	Finding site	Structure of fovea centralis	true	Inferred relationship	Some	1
Foveal hypoplasia with presenile cataract syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Foveal hypoplasia with presenile cataract syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Foveal hypoplasia with presenile cataract syndrome	Interprets	Ocular motility observable	true	Inferred relationship	Some	3
Foveal hypoplasia with presenile cataract syndrome	Finding site	Structure of lens of eye	true	Inferred relationship	Some	2
Foveal hypoplasia with presenile cataract syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Foveal hypoplasia with presenile cataract syndrome	Associated morphology	Abnormally opaque structure	true	Inferred relationship	Some	2
Foveal hypoplasia with presenile cataract syndrome	Is a	Developmental hereditary disorder	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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3737478019	O'Donnell Pappas syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3737479010	Foveal hypoplasia with presenile cataract syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3737480013	Foveal hypoplasia with presenile cataract syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3737481012	A rare genetic ocular disease with characteristics of congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life) and normal irides. Corneal pannus and/or optic nerve hypoplasia may also be present. Caused by heterozygous mutation in the PAX6 gene on chromosome 11p13.	en	Definition	Active	Case sensitive	SNOMED CT core