720750004: syndrome de dégénérescence spinocérébelleuse-dystrophie cornéenne (trouble)

SNOMED CT Concept\constatation clinique\...

\constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\constatation à propos du dos\Finding of spinal region\constatation à propos de la moelle spinale\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)

\Finding related to coordination / incoordination (finding)\Ataxia\...

\Hereditary ataxia (disorder)\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)

\Cerebellar ataxia\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)

\constatation à propos du système nerveux central\constatation à propos de la moelle spinale\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

\constatation à propos l'encéphale\Disorder of brain (disorder)\...

\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)

\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\affection cérébelleuse\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\affection cérébelleuse\Cerebellar ataxia\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)

\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)

\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea (disorder)\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Corneal finding\Disorder of cornea (disorder)\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of cornea (disorder)\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea (disorder)\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)

\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea (disorder)\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\affection de la tête\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\affection de la tête\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)

\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Corneal finding\Disorder of cornea (disorder)\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\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 cornea (disorder)\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\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)\affection dégénérative de l'œil\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\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 cornea (disorder)\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\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)\affection dégénérative de l'œil\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\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 cornea (disorder)\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Hereditary corneal dystrophy\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary corneal dystrophy\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\Disease\affection dégénérative\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\Disease\affection dégénérative\affection dégénérative de l'œil\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary corneal dystrophy\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\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 cornea (disorder)\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Hereditary corneal dystrophy\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\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 degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\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\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea (disorder)\Corneal degeneration\Corneal dystrophy\Hereditary corneal dystrophy\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\Disease\affection de la tête\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\Disease\affection de la tête\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
\Disease\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)

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

756021000241116 syndrome de dégénérescence spinocérébelleuse-dystrophie cornéenne (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

880471000172114 syndrome de dégénérescence spinocérébelleuse-dystrophie cornéenne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

890931000172117 syndrome de Der Kaloustian-Jarudi-Khoury fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)	morphologie associée (attribut)	Degenerative abnormality	true	Inferred relationship	Some	1
Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)	morphologie associée (attribut)	Degenerative abnormality	true	Inferred relationship	Some	2
Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)	localisation d'une constatation (attribut)	structure cérébelleuse	true	Inferred relationship	Some	1
Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)	localisation d'une constatation (attribut)	moelle spinale (structure corporelle)	true	Inferred relationship	Some	2
Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)	morphologie associée (attribut)	dégénérescence	false	Inferred relationship	Some	3
Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)	localisation d'une constatation (attribut)	moelle spinale (structure corporelle)	false	Inferred relationship	Some	3
Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)	est un(e) (attribut)	Hereditary cerebellar degeneration	false	Inferred relationship	Some
Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)	est un(e) (attribut)	Hereditary corneal dystrophy	true	Inferred relationship	Some
Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)	est un(e) (attribut)	ataxie spinocérébelleuse dominante	true	Inferred relationship	Some
Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)	morphologie associée (attribut)	dégénérescence	false	Inferred relationship	Some	5
Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)	localisation d'une constatation (attribut)	structure cérébelleuse	false	Inferred relationship	Some	5
Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)	morphologie associée (attribut)	Dystrophy (morphologic abnormality)	true	Inferred relationship	Some	4
Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)	localisation d'une constatation (attribut)	cornée (structure corporelle)	true	Inferred relationship	Some	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
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
756021000241116	syndrome de dégénérescence spinocérébelleuse-dystrophie cornéenne (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
880471000172114	syndrome de dégénérescence spinocérébelleuse-dystrophie cornéenne	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
890931000172117	syndrome de Der Kaloustian-Jarudi-Khoury	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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