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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain\Chronic brain syndrome (disorder)\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Chronic brain syndrome (disorder)\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia 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\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia 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\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system (disorder)\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome
• \Disorder of vision (disorder)\Visual impairment (disorder)\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia 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\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia 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\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of vision (disorder)\Visual impairment (disorder)\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia 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\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic brain syndrome (disorder)\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia 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\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia 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\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia 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\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia 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\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic brain syndrome (disorder)\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome
• \Disease\Developmental disorder (disorder)\Developmental delay\Global developmental delay\Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome

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
5399396014	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by 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
5399397017	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterised by 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
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
5399396014	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by 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
5399397017	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterised by 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
3448611001000111	Globale Entwicklungsverzögerung-Sehanomalien-progressive zerebelläre Atrophie-trunkale Hypotonie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6297911000241112	syndrome de retard global de développement, anomalies visuelles, atrophie cérébelleuse progressive et hypotonie axiale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6297911000241112	syndrome de retard global de développement, anomalies visuelles, atrophie cérébelleuse progressive et hypotonie axiale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3448611001000111	Globale Entwicklungsverzögerung-Sehanomalien-progressive zerebelläre Atrophie-trunkale Hypotonie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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