253176002: Gillespie syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Finding related to coordination / incoordination (finding)\Ataxia\Cerebellar ataxia\Gillespie syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Gillespie syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Gillespie syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Gillespie 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 anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie syndrome
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie syndrome
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie syndrome
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Iris finding\Disorder of iris (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie 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 anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie 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 anterior uveal tract (disorder)\Disorder of iris (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie syndrome
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie 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 anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie syndrome
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie syndrome
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie syndrome
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie syndrome
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie syndrome
• \affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Gillespie syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Iris finding\Disorder of iris (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie 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 anterior uveal tract (disorder)\Disorder of iris (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie 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\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie 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 anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie 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 anterior uveal tract (disorder)\Disorder of iris (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie 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\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie syndrome
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie 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 anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie 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 anterior uveal tract (disorder)\Disorder of iris (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie 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\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie 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 uveal tract\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie 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 anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie 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 anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie 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 anterior uveal tract (disorder)\Disorder of iris (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie 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\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Gillespie 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 anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie syndrome
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie syndrome
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie syndrome
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of anterior uveal tract (disorder)\Disorder of iris (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Gillespie syndrome
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Gillespie syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Gillespie syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie syndrome
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Gillespie syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Gillespie syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of iris\Congenital aniridia (disorder)\Gillespie syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
377071011	Gillespie syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3787920017	Aniridia, cerebellar ataxia, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
643904017	Gillespie syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3787921018	A rare congenital neurological disorder with characteristics of the association of partial bilateral aniridia with non-progressive cerebellar ataxia and intellectual disability. Aniridia is visible at birth as fixed dilated pupils. Non-progressive cerebellar ataxia is associated with delayed developmental milestones and hypotonia, gait and balance disorders with incoordination, intention tremor and scanning speech. Sporadic and familial cases have been observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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