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253176002: Gillespie syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Gillespie syndrome

\Finding related to coordination / incoordination\Ataxia\Cerebellar ataxia\Gillespie syndrome

\Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Gillespie syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Gillespie syndrome

\Finding of head and neck region\Head finding\...

\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Gillespie syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia\Gillespie syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital aniridia\Gillespie syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia\Gillespie syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital aniridia\Gillespie syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia\Gillespie syndrome
\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Gillespie syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Gillespie syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Gillespie syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Gillespie syndrome

\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia\Gillespie syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital aniridia\Gillespie syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia\Gillespie syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital aniridia\Gillespie syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia\Gillespie syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Gillespie syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia\Gillespie syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital aniridia\Gillespie syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia\Gillespie syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital aniridia\Gillespie syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia\Gillespie syndrome
\Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Gillespie syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Gillespie syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia\Gillespie syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia\Gillespie syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Gillespie syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Gillespie syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia\Gillespie syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital aniridia\Gillespie syndrome

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

377071011 Gillespie syndrome en Synonym Active Case sensitive SNOMED CT core

3787920017 Aniridia, cerebellar ataxia, intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core

643904017 Gillespie syndrome (disorder) en Fully specified name Active Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Gillespie syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	1
Gillespie syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Gillespie syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Gillespie syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Gillespie syndrome	Is a	Cerebellar ataxia	true	Inferred relationship	Some
Gillespie syndrome	Is a	Congenital aniridia	true	Inferred relationship	Some
Gillespie syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Gillespie syndrome	Finding site	Iris structure	true	Inferred relationship	Some	1
Gillespie syndrome	Associated morphology	Absence	true	Inferred relationship	Some	1
Gillespie syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	3
Gillespie syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
Gillespie syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	4
Gillespie syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Gillespie syndrome	Finding site	Cerebellar structure	false	Inferred relationship	Some	1
Gillespie syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Gillespie syndrome	Finding site	Structure of nervous system	false	Inferred relationship	Some	2
Gillespie syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	1
Gillespie syndrome	Associated morphology	Congenital developmental anomaly	false	Inferred relationship	Some	1
Gillespie syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Gillespie syndrome	Finding site	Cerebellar structure	false	Inferred relationship	Some	1
Gillespie syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Gillespie syndrome	Finding site	Cerebellar structure	false	Inferred relationship	Some	1
Gillespie syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Gillespie syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Gillespie syndrome	Finding site	Cerebellar structure	true	Inferred relationship	Some	2
Gillespie syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Gillespie syndrome	Finding site	Cerebellar vermis structure	false	Inferred relationship	Some	2
Gillespie syndrome	Is a	Dysgenesis of the cerebellum	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
377071011	Gillespie syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3787920017	Aniridia, cerebellar ataxia, intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
643904017	Gillespie syndrome (disorder)	en	Fully specified name	Active	Case sensitive	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	Case sensitive	SNOMED CT core