720750004: Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of back\Finding of spinal region\Disorder of spinal region\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Finding of back\Finding of spinal region\Finding of spinal cord\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Finding of back\Disorder of back\Disorder of spinal region\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Corneal cerebellar syndrome

\Finding related to coordination / incoordination\Ataxia\...

\Hereditary ataxia\Spinocerebellar ataxia\Corneal cerebellar syndrome

\Cerebellar ataxia\Spinocerebellar ataxia\Corneal cerebellar syndrome

\Central nervous system finding\Finding of spinal cord\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Central nervous system finding\Disorder of the central nervous system\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Corneal cerebellar syndrome

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

\Finding of brain\Encephalopathy\...

\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Corneal cerebellar syndrome

\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Corneal cerebellar syndrome

\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Corneal cerebellar syndrome

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Corneal cerebellar syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Corneal cerebellar syndrome
\Finding of head region\Globe finding\Anterior segment finding\Corneal finding\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Corneal cerebellar syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Corneal cerebellar syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Corneal cerebellar syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Corneal cerebellar syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Corneal cerebellar syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Corneal cerebellar syndrome
\Disorder of head\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Disorder of head\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Disorder of head\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Corneal cerebellar syndrome

\Eye / vision finding\Globe finding\Anterior segment finding\Corneal finding\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Corneal cerebellar syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Corneal cerebellar syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Corneal cerebellar syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Corneal cerebellar syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Corneal cerebellar syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Corneal cerebellar syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Hereditary corneal dystrophy\Corneal cerebellar syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary corneal dystrophy\Corneal cerebellar syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Corneal cerebellar syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Corneal cerebellar syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary corneal dystrophy\Corneal cerebellar syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Corneal cerebellar syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Corneal cerebellar syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hereditary corneal dystrophy\Corneal cerebellar syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Corneal cerebellar syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Corneal cerebellar syndrome
\Disease\Disorder of head\Encephalopathy\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Disease\Disorder of head\Encephalopathy\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia\Corneal cerebellar syndrome
\Disease\Disorder of back\Disorder of spinal region\Spinal cord disease\Encephalomyelopathy\Spinocerebellar disease\Spinocerebellar ataxia\Corneal cerebellar syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3321989010 Spinocerebellar degeneration and corneal dystrophy syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3321990018 Corneal cerebellar syndrome en Synonym Active Case insensitive SNOMED CT core

3321991019 Der Kaloustian Jarudi Khoury syndrome en Synonym Active Case sensitive SNOMED CT core

3321992014 Spinocerebellar degeneration and corneal dystrophy syndrome en Synonym Active Case insensitive SNOMED CT core

3321993016 Syndrome with the unusual combination of spinocerebellar degeneration and corneal dystrophy. Three sisters born to normal consanguineous parents have been reported, one of who had only minor spinocerebellar signs without ocular involvement. This autosomal recessive syndrome differs from the Mousa-Al-Din-Al-Nassar syndrome by the subnormal intellectual development and the epithelial (versus stromal) nature of the corneal dystrophy. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Corneal cerebellar syndrome	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
Corneal cerebellar syndrome	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	2
Corneal cerebellar syndrome	Finding site	Cerebellar structure	true	Inferred relationship	Some	1
Corneal cerebellar syndrome	Finding site	Spinal cord structure	true	Inferred relationship	Some	2
Corneal cerebellar syndrome	Associated morphology	Degeneration	false	Inferred relationship	Some	3
Corneal cerebellar syndrome	Finding site	Spinal cord structure	false	Inferred relationship	Some	3
Corneal cerebellar syndrome	Is a	Hereditary cerebellar degeneration	false	Inferred relationship	Some
Corneal cerebellar syndrome	Is a	Hereditary corneal dystrophy	true	Inferred relationship	Some
Corneal cerebellar syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Corneal cerebellar syndrome	Is a	Spinocerebellar ataxia	true	Inferred relationship	Some
Corneal cerebellar syndrome	Associated morphology	Degeneration	false	Inferred relationship	Some	5
Corneal cerebellar syndrome	Finding site	Cerebellar structure	false	Inferred relationship	Some	5
Corneal cerebellar syndrome	Associated morphology	Dystrophy	true	Inferred relationship	Some	4
Corneal cerebellar syndrome	Finding site	Corneal structure	true	Inferred relationship	Some	4

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
3321989010	Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3321990018	Corneal cerebellar syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3321991019	Der Kaloustian Jarudi Khoury syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3321992014	Spinocerebellar degeneration and corneal dystrophy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3321993016	Syndrome with the unusual combination of spinocerebellar degeneration and corneal dystrophy. Three sisters born to normal consanguineous parents have been reported, one of who had only minor spinocerebellar signs without ocular involvement. This autosomal recessive syndrome differs from the Mousa-Al-Din-Al-Nassar syndrome by the subnormal intellectual development and the epithelial (versus stromal) nature of the corneal dystrophy.	en	Definition	Active	Case sensitive	SNOMED CT core