720410001: syndrome acrootooculaire (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\syndrome acrootooculaire
• \constatation à propos du système nerveux central\Optic disc finding\affection du disque du nerf optique\pseudo-oedème papillaire (trouble)\syndrome acrootooculaire
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy\syndrome acrootooculaire
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of visual pathways (disorder)\Disorder of optic nerve\affection du disque du nerf optique\pseudo-oedème papillaire (trouble)\syndrome acrootooculaire
• \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)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\affection du disque du nerf optique\pseudo-oedème papillaire (trouble)\syndrome acrootooculaire
• \Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\syndrome acrootooculaire
• \Finding of head region\constatation à propos d'un globe oculaire\Retina finding (finding)\Optic disc finding\affection du disque du nerf optique\pseudo-oedème papillaire (trouble)\syndrome acrootooculaire
• \Finding of head region\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\affection du disque du nerf optique\pseudo-oedème papillaire (trouble)\syndrome acrootooculaire
• \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)\affection du disque du nerf optique\pseudo-oedème papillaire (trouble)\syndrome acrootooculaire
• \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)\affection du disque du nerf optique\pseudo-oedème papillaire (trouble)\syndrome acrootooculaire
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\syndrome acrootooculaire
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\syndrome acrootooculaire
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Retina finding (finding)\Optic disc finding\affection du disque du nerf optique\pseudo-oedème papillaire (trouble)\syndrome acrootooculaire
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\affection du disque du nerf optique\pseudo-oedème papillaire (trouble)\syndrome acrootooculaire
• \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)\affection du disque du nerf optique\pseudo-oedème papillaire (trouble)\syndrome acrootooculaire
• \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)\affection du disque du nerf optique\pseudo-oedème papillaire (trouble)\syndrome acrootooculaire
• \constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Inherited optic neuropathy\syndrome acrootooculaire
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy\syndrome acrootooculaire
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\affection du disque du nerf optique\pseudo-oedème papillaire (trouble)\syndrome acrootooculaire
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\syndrome acrootooculaire
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\syndrome acrootooculaire
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\syndrome acrootooculaire
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\syndrome acrootooculaire
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\syndrome acrootooculaire
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\syndrome acrootooculaire
• \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)\affection du disque du nerf optique\pseudo-oedème papillaire (trouble)\syndrome acrootooculaire
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Inherited optic neuropathy\syndrome acrootooculaire
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy\syndrome acrootooculaire
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\affection du disque du nerf optique\pseudo-oedème papillaire (trouble)\syndrome acrootooculaire
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy\syndrome acrootooculaire
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\affection du disque du nerf optique\pseudo-oedème papillaire (trouble)\syndrome acrootooculaire
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited optic neuropathy\syndrome acrootooculaire
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy\syndrome acrootooculaire
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways (disorder)\Disorder of optic nerve\affection du disque du nerf optique\pseudo-oedème papillaire (trouble)\syndrome acrootooculaire
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\syndrome acrootooculaire
• \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)\affection du disque du nerf optique\pseudo-oedème papillaire (trouble)\syndrome acrootooculaire
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\syndrome acrootooculaire
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\syndrome acrootooculaire
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\syndrome acrootooculaire
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\syndrome acrootooculaire
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\syndrome acrootooculaire
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\syndrome acrootooculaire
• \Disease\trouble du développement\Developmental hereditary disorder\syndrome acrootooculaire
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\syndrome acrootooculaire
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\syndrome acrootooculaire
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\syndrome acrootooculaire
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\syndrome acrootooculaire

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1008011000172111	syndrome acrootooculaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3320661016	Acrootoocular syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3320662011	Acro-oto-ocular syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3320663018	Acrootoocular syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3320664012	Pseudopapilledema, blepharophimosis and hand anomaly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3320665013	Pseudopapilloedema, blepharophimosis and hand anomaly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
755291000241119	syndrome acrootooculaire (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
925181000172113	syndrome de pseudo-oedème de la papille, blépharophimosis, main anormale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3320666014	A very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure) mixed hearing loss, facial dysmorphism and limb extremity anomalies. Only 4 cases have been reported in the literature from 3 inbred sibships. The affected patients have no intellectual deficit. Transmitted as an autosomal recessive trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3320667017	A very rare disorder associating pseudopapilloedema (optic disc swelling not secondary to increased intracranial pressure) mixed hearing loss, facial dysmorphism and limb extremity anomalies. Only 4 cases have been reported in the literature from 3 inbred sibships. The affected patients have no intellectual deficit. Transmitted as an autosomal recessive trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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