778042000: syndrome d'hypoplasie fovéale-cataracte présénile (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\cataracte\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Disorder of macula of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
• \Finding of head region\Disorder of eye region (disorder)\Congenital nystagmus\Foveal hypoplasia with presenile cataract syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding\cataracte\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\cataracte\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Retina finding (finding)\Macula finding\Disorder of macula of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\Disorder of macula of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\cataracte\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Disorder of macula of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Lesion of eye structure\Cataract finding\cataracte\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\cataracte\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Disorder of macula of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
• \affection de la tête\Disorder of eye region (disorder)\Congenital nystagmus\Foveal hypoplasia with presenile cataract syndrome
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos du mouvement oculaire\Nystagmus present\Nystagmus\Congenital nystagmus\Foveal hypoplasia with presenile cataract syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding\cataracte\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\cataracte\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Retina finding (finding)\Macula finding\Disorder of macula of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\Disorder of macula of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\cataracte\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Disorder of macula of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Lesion of eye structure\Cataract finding\cataracte\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\cataracte\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Disorder of macula of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Congenital nystagmus\Foveal hypoplasia with presenile cataract syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Foveal hypoplasia with presenile cataract syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye movements\Nystagmus\Congenital nystagmus\Foveal hypoplasia with presenile cataract syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Foveal hypoplasia with presenile cataract syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Foveal hypoplasia with presenile cataract syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Foveal hypoplasia with presenile cataract syndrome
• \Disease\affection dégénérative\affection dégénérative de l'œil\cataracte\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Foveal hypoplasia with presenile cataract syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\cataracte\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Disorder of macula of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Congenital nystagmus\Foveal hypoplasia with presenile cataract syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Foveal hypoplasia with presenile cataract syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye movements\Nystagmus\Congenital nystagmus\Foveal hypoplasia with presenile cataract syndrome
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\cataracte\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Disorder of macula of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Presenile cataract\Foveal hypoplasia with presenile cataract syndrome
• \Disease\affection de la tête\Disorder of eye region (disorder)\Congenital nystagmus\Foveal hypoplasia with presenile cataract syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \Disease\Congenital disease\Congenital nystagmus\Foveal hypoplasia with presenile cataract syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Foveal hypoplasia with presenile cataract syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina (disorder)\Congenital anomaly of macula (disorder)\Congenital hypoplasia of fovea centralis (disorder)\Foveal hypoplasia with presenile cataract syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3737478019	O'Donnell Pappas syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3737479010	Foveal hypoplasia with presenile cataract syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3737480013	Foveal hypoplasia with presenile cataract syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
785271000241111	syndrome d'hypoplasie fovéale-cataracte présénile (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
924451000172110	syndrome d'O'Donnell-Pappas	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
949811000172111	syndrome d'hypoplasie fovéale-cataracte présénile	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

Back to Start