763669001: syndrome d'ataxie-myosis congénital (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Finding related to coordination / incoordination (finding)\Ataxia\Hereditary ataxia (disorder)\Spastic ataxia with congenital miosis
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Spastic ataxia with congenital miosis
• \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)\Congenital anomaly of eye\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Pupillary disorder\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \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 pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Pupillary disorder\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Finding of head region\constatation à propos d'un globe oculaire\Pupil finding\Finding of appearance of pupil\Finding of size of pupil\Constricted pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Finding of head region\constatation à propos d'un globe oculaire\Pupil finding\Pupillary disorder\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \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 pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Pupillary disorder\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \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 pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Pupillary disorder\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Pupil finding\Finding of appearance of pupil\Finding of size of pupil\Constricted pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Pupil finding\Pupillary disorder\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \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 pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Pupillary disorder\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Spastic ataxia with congenital miosis
• \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 pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \constatation fonctionnelle\Constricted pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Spastic ataxia with congenital miosis
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Spastic ataxia with congenital miosis
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Spastic ataxia with congenital miosis
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Spastic ataxia with congenital miosis
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Spastic ataxia with congenital miosis
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Spastic ataxia with congenital miosis
• \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 pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Pupillary disorder\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Spastic ataxia with congenital miosis
• \Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Spastic ataxia with congenital miosis
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spastic ataxia with congenital miosis
• \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 pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Pupillary disorder\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Disease\trouble du développement\Developmental hereditary disorder\Spastic ataxia with congenital miosis
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3643234011	Spastic ataxia with congenital miosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643235012	Autosomal dominant spastic ataxia type 7	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643236013	Spastic ataxia with congenital miosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
766311000241117	syndrome d'ataxie-myosis congénital (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
915531000172111	ataxie spastique autosomique dominante type 7	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
916881000172115	syndrome d'ataxie-myosis congénital	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3643237016	A rare hereditary ataxia with characteristics of an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis. Nystagmus may also be present.	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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