715528001: syndrome de dégénérescence cochléo-sacculaire-cataracte (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\Vestibular system finding (finding)\Labyrinthine disorder\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome (disorder)
\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\Cochleosaccular degeneration and cataract syndrome (disorder)
\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 anterior segment of eye\Disorder of lens\cataracte\Cochleosaccular degeneration and cataract syndrome (disorder)
\constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Ear finding\affection de l'oreille\Degenerative disorder of ear (disorder)\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome (disorder)
\constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Ear finding\affection de l'oreille\Disorder of inner ear\Labyrinthine disorder\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome (disorder)
\constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding\cataracte\Cochleosaccular degeneration and cataract syndrome (disorder)
\constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\cataracte\Cochleosaccular degeneration and cataract syndrome (disorder)
\constatation à propos d'une région de la tête et du cou\Head finding (finding)\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\Cochleosaccular degeneration and cataract syndrome (disorder)
\constatation à propos d'une région de la tête et du cou\Head finding (finding)\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\Cochleosaccular degeneration and cataract syndrome (disorder)
\constatation à propos d'une région de la tête et du cou\Head finding (finding)\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\Cochleosaccular degeneration and cataract syndrome (disorder)
\constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\constatation à propos d'un globe oculaire\Lesion of eye structure\Cataract finding\cataracte\Cochleosaccular degeneration and cataract syndrome (disorder)
\constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\cataracte\Cochleosaccular degeneration and cataract syndrome (disorder)
\constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Cochleosaccular degeneration and cataract syndrome (disorder)
\constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\affection de l'oreille\Degenerative disorder of ear (disorder)\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome (disorder)
\constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\affection de l'oreille\Disorder of inner ear\Labyrinthine disorder\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome (disorder)
\constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear finding\affection de l'oreille\Degenerative disorder of ear (disorder)\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome (disorder)
\constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear finding\affection de l'oreille\Disorder of inner ear\Labyrinthine disorder\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome (disorder)
\constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear, nose and throat disorder\affection de l'oreille\Degenerative disorder of ear (disorder)\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome (disorder)
\constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear, nose and throat disorder\affection de l'oreille\Disorder of inner ear\Labyrinthine disorder\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome (disorder)

\constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome (disorder)
\constatation à propos de l'oreille et de l'audition\affection du système auditif\affection de l'oreille\Degenerative disorder of ear (disorder)\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome (disorder)
\constatation à propos de l'oreille et de l'audition\affection du système auditif\affection de l'oreille\Disorder of inner ear\Labyrinthine disorder\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome (disorder)
\constatation à propos de l'oreille et de l'audition\Ear finding\affection de l'oreille\Degenerative disorder of ear (disorder)\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome (disorder)
\constatation à propos de l'oreille et de l'audition\Ear finding\affection de l'oreille\Disorder of inner ear\Labyrinthine disorder\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome (disorder)

\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\Cochleosaccular degeneration and cataract syndrome (disorder)
\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\Cochleosaccular degeneration and cataract syndrome (disorder)
\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\Cochleosaccular degeneration and cataract syndrome (disorder)
\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\Cochleosaccular degeneration and cataract syndrome (disorder)
\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\Cochleosaccular degeneration and cataract syndrome (disorder)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Lesion of eye structure\Cataract finding\cataracte\Cochleosaccular degeneration and cataract syndrome (disorder)
\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\Cochleosaccular degeneration and cataract syndrome (disorder)
\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\Cochleosaccular degeneration and cataract syndrome (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Cochleosaccular degeneration and cataract syndrome (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Cochleosaccular degeneration and cataract syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Cochleosaccular degeneration and cataract syndrome (disorder)
\Disease\affection dégénérative\Degenerative disorder of ear (disorder)\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome (disorder)
\Disease\affection dégénérative\affection dégénérative de l'œil\cataracte\Cochleosaccular degeneration and cataract syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Cochleosaccular degeneration and cataract syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome (disorder)
\Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome (disorder)
\Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\Degenerative disorder of ear (disorder)\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome (disorder)
\Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\Disorder of inner ear\Labyrinthine disorder\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome (disorder)
\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\Cochleosaccular degeneration and cataract syndrome (disorder)
\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\Cochleosaccular degeneration and cataract syndrome (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Cochleosaccular degeneration and cataract syndrome (disorder)
\Disease\Ear, nose and throat disorder\affection de l'oreille\Degenerative disorder of ear (disorder)\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome (disorder)
\Disease\Ear, nose and throat disorder\affection de l'oreille\Disorder of inner ear\Labyrinthine disorder\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome (disorder)
\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\Cochleosaccular degeneration and cataract syndrome (disorder)
\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\Cochleosaccular degeneration and cataract syndrome (disorder)
\Disease\affection de la tête\affection de l'oreille\Degenerative disorder of ear (disorder)\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome (disorder)
\Disease\affection de la tête\affection de l'oreille\Disorder of inner ear\Labyrinthine disorder\Inherited cochlear degeneration\Cochleosaccular degeneration and cataract syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3302927017 Cochleosaccular degeneration and cataract syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3302928010 Cochleosaccular degeneration and cataract syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3302929019 Cochleosaccular degeneration with progressive cataract en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

747781000241118 syndrome de dégénérescence cochléo-sacculaire-cataracte (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

917461000172110 syndrome de dégénérescence cochléo-sacculaire-cataracte fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3302930012 Rare syndrome with manifestation of progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far reported in two families. Transmission is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cochleosaccular degeneration and cataract syndrome (disorder)	morphologie associée (attribut)	opacité	true	Inferred relationship	Some	1
Cochleosaccular degeneration and cataract syndrome (disorder)	localisation d'une constatation (attribut)	cristallin	true	Inferred relationship	Some	1
Cochleosaccular degeneration and cataract syndrome (disorder)	localisation d'une constatation (attribut)	Cochlear structure	true	Inferred relationship	Some	2
Cochleosaccular degeneration and cataract syndrome (disorder)	morphologie associée (attribut)	Degenerative abnormality	true	Inferred relationship	Some	2
Cochleosaccular degeneration and cataract syndrome (disorder)	est un(e) (attribut)	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Cochleosaccular degeneration and cataract syndrome (disorder)	est un(e) (attribut)	cataracte	true	Inferred relationship	Some
Cochleosaccular degeneration and cataract syndrome (disorder)	est un(e) (attribut)	Inherited cochlear degeneration	true	Inferred relationship	Some
Cochleosaccular degeneration and cataract syndrome (disorder)	est un(e) (attribut)	Auditory system hereditary disorder	false	Inferred relationship	Some
Cochleosaccular degeneration and cataract syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of the visual system	true	Inferred relationship	Some
Cochleosaccular degeneration and cataract syndrome (disorder)	morphologie associée (attribut)	dégénérescence	false	Inferred relationship	Some	3
Cochleosaccular degeneration and cataract syndrome (disorder)	localisation d'une constatation (attribut)	Cochlear structure	false	Inferred relationship	Some	3
Cochleosaccular degeneration and cataract syndrome (disorder)	morphologie associée (attribut)	Cataract	false	Inferred relationship	Some	4
Cochleosaccular degeneration and cataract syndrome (disorder)	localisation d'une constatation (attribut)	cristallin	false	Inferred relationship	Some	4

Inbound Relationships

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Active

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Characteristic

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This concept is not in any reference sets