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253176002: Gillespie syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Gillespie syndrome

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

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

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

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

\Disorder of head\Disorder of eye region\Disorder of eye proper\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 proper\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 proper\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 proper\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\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Gillespie syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Gillespie syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Gillespie syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Gillespie syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

377071011 Gillespie syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

643904017 Gillespie syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3787920017 Aniridia, cerebellar ataxia, intellectual disability syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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