720750004: Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

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

\Head finding (finding)\Finding of brain\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Corneal cerebellar syndrome
\Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Corneal cerebellar syndrome
\Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Corneal cerebellar syndrome
\Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia (disorder)\Corneal cerebellar syndrome
\Head finding (finding)\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Corneal cerebellar syndrome
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Corneal degeneration\Corneal dystrophy (disorder)\Hereditary corneal dystrophy\Corneal cerebellar syndrome
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Corneal degeneration\Corneal dystrophy (disorder)\Hereditary corneal dystrophy\Corneal cerebellar syndrome
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Corneal finding\Disease of cornea (disorder)\Corneal degeneration\Corneal dystrophy (disorder)\Hereditary corneal dystrophy\Corneal cerebellar syndrome
\Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Corneal degeneration\Corneal dystrophy (disorder)\Hereditary corneal dystrophy\Corneal cerebellar syndrome
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Corneal degeneration\Corneal dystrophy (disorder)\Hereditary corneal dystrophy\Corneal cerebellar syndrome
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Corneal degeneration\Corneal dystrophy (disorder)\Hereditary corneal dystrophy\Corneal cerebellar syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Corneal degeneration\Corneal dystrophy (disorder)\Hereditary corneal dystrophy\Corneal cerebellar syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Corneal degeneration\Corneal dystrophy (disorder)\Hereditary corneal dystrophy\Corneal cerebellar syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Corneal cerebellar syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Corneal cerebellar syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Corneal cerebellar syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia (disorder)\Corneal cerebellar syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Corneal cerebellar syndrome

\Finding of coordination\Ataxia\...

\Hereditary ataxia (disorder)\Spinocerebellar ataxia (disorder)\Corneal cerebellar syndrome

\Cerebellar ataxia\Spinocerebellar ataxia (disorder)\Corneal cerebellar syndrome

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

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core

3321990018 Corneal cerebellar syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3321991019 Der Kaloustian Jarudi Khoury syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3321992014 Spinocerebellar degeneration and corneal dystrophy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5402460012 A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402461011 A rare, genetic, neurological disorder characterised by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3321989010 Spinocerebellar degeneration and corneal dystrophy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3321989010 Spinocerebellar degeneration and corneal dystrophy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3321990018 Corneal cerebellar syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3321990018 Corneal cerebellar syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3321991019 Der Kaloustian Jarudi Khoury syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3321992014 Spinocerebellar degeneration and corneal dystrophy syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3321992014 Spinocerebellar degeneration and corneal dystrophy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

5402460012 A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402461011 A rare, genetic, neurological disorder characterised by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

528761000274114 Der Kaloustian-Jarudi-Khoury-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3419361001000116 Spinozerebelläre Degeneration-Hornhautdystrophie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

880471000172114 syndrome de dégénérescence spinocérébelleuse-dystrophie cornéenne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

890931000172117 syndrome de Der Kaloustian-Jarudi-Khoury fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

880471000172114 syndrome de dégénérescence spinocérébelleuse-dystrophie cornéenne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

890931000172117 syndrome de Der Kaloustian-Jarudi-Khoury fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

528761000274114 Der Kaloustian-Jarudi-Khoury-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3419361001000116 Spinozerebelläre Degeneration-Hornhautdystrophie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Corneal cerebellar syndrome	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Corneal cerebellar syndrome	Finding site	Spinal cord structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Corneal cerebellar syndrome	Is a	Hereditary cerebellar degeneration	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Corneal cerebellar syndrome	Is a	Hereditary corneal dystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Corneal cerebellar syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Corneal cerebellar syndrome	Is a	Spinocerebellar ataxia (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Corneal cerebellar syndrome	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Corneal cerebellar syndrome	Finding site	Cerebellar structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Corneal cerebellar syndrome	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Corneal cerebellar syndrome	Finding site	Corneal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Corneal cerebellar syndrome	Associated morphology	Degenerative abnormality (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Corneal cerebellar syndrome	Associated morphology	Degenerative abnormality (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Corneal cerebellar syndrome	Finding site	Cerebellar structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Corneal cerebellar syndrome	Finding site	Spinal cord structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3321989010	Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321990018	Corneal cerebellar syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321991019	Der Kaloustian Jarudi Khoury syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3321992014	Spinocerebellar degeneration and corneal dystrophy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5402460012	A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402461011	A rare, genetic, neurological disorder characterised by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3321989010	Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3321989010	Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321990018	Corneal cerebellar syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3321990018	Corneal cerebellar syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321991019	Der Kaloustian Jarudi Khoury syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3321992014	Spinocerebellar degeneration and corneal dystrophy syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3321992014	Spinocerebellar degeneration and corneal dystrophy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402460012	A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402461011	A rare, genetic, neurological disorder characterised by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
528761000274114	Der Kaloustian-Jarudi-Khoury-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3419361001000116	Spinozerebelläre Degeneration-Hornhautdystrophie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
880471000172114	syndrome de dégénérescence spinocérébelleuse-dystrophie cornéenne	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
890931000172117	syndrome de Der Kaloustian-Jarudi-Khoury	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
880471000172114	syndrome de dégénérescence spinocérébelleuse-dystrophie cornéenne	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
890931000172117	syndrome de Der Kaloustian-Jarudi-Khoury	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
528761000274114	Der Kaloustian-Jarudi-Khoury-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3419361001000116	Spinozerebelläre Degeneration-Hornhautdystrophie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module