1172696009: Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Chronic brain syndrome\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia 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\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia 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\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia 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\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia 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\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia 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\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia 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)\...
• \affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder)
• \Chronic brain syndrome\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder)
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\...
• \affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder)
• \Chronic brain syndrome\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder)
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\...
• \Hereditary disorder of the visual system\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder)
• \Disorder of vision\Visual impairment (disorder)\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia 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\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia 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\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of vision\Visual impairment (disorder)\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia 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\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\trouble neurologique chronique\Chronic brain syndrome\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia 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\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia 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\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia 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\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia 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\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Chronic brain syndrome\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder)
• \Disease\maladie chronique\trouble neurologique chronique\Chronic brain syndrome\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder)
• \Disease\trouble du développement\retard de développement\Global developmental delay\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4635424013	Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4635425014	Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4635433010	A rare genetic neurological disorder with characteristics of mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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