1373775000: Neuronal ceroid lipofuscinosis type 11 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Neuronal ceroid lipofuscinosis type 11
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Neuronal ceroid lipofuscinosis type 11
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Neuronal ceroid lipofuscinosis type 11
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Neuronal ceroid lipofuscinosis type 11
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Neuronal ceroid lipofuscinosis type 11
• \Head finding (finding)\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Neuronal ceroid lipofuscinosis type 11
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Neuronal ceroid lipofuscinosis type 11
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Neuronal ceroid lipofuscinosis type 11
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Neuronal ceroid lipofuscinosis type 11
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Neuronal ceroid lipofuscinosis type 11
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Neuronal ceroid lipofuscinosis type 11
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Neuronal ceroid lipofuscinosis type 11
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Neuronal ceroid lipofuscinosis type 11
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11
• \Finding related to coordination / incoordination (finding)\Ataxia\...
• \Hereditary ataxia (disorder)\Neuronal ceroid lipofuscinosis type 11
• \Cerebellar ataxia\Neuronal ceroid lipofuscinosis type 11
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Neuronal ceroid lipofuscinosis type 11
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Neuronal ceroid lipofuscinosis type 11
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Neuronal ceroid lipofuscinosis type 11
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Neuronal ceroid lipofuscinosis type 11
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Neuronal ceroid lipofuscinosis type 11
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Neuronal ceroid lipofuscinosis type 11
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11
• \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\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11
• \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\Neuronal ceroid lipofuscinosis type 11
• \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\Neuronal ceroid lipofuscinosis type 11
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11
• \Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Neuronal ceroid lipofuscinosis type 11
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Neuronal ceroid lipofuscinosis type 11
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Neuronal ceroid lipofuscinosis type 11
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Neuronal ceroid lipofuscinosis type 11
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Neuronal ceroid lipofuscinosis type 11
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Neuronal ceroid lipofuscinosis type 11
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Neuronal ceroid lipofuscinosis type 11
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Neuronal ceroid lipofuscinosis type 11
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Neuronal ceroid lipofuscinosis type 11
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Neuronal ceroid lipofuscinosis type 11
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Neuronal ceroid lipofuscinosis type 11
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Neuronal ceroid lipofuscinosis type 11
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Neuronal ceroid lipofuscinosis type 11
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Neuronal ceroid lipofuscinosis type 11
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11
• \Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Neuronal ceroid lipofuscinosis type 11
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Neuronal ceroid lipofuscinosis type 11
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Neuronal ceroid lipofuscinosis type 11
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Neuronal ceroid lipofuscinosis type 11
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Neuronal ceroid lipofuscinosis type 11
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Neuronal ceroid lipofuscinosis type 11
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Neuronal ceroid lipofuscinosis type 11
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Neuronal ceroid lipofuscinosis type 11
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Neuronal ceroid lipofuscinosis type 11
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Neuronal ceroid lipofuscinosis type 11
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Neuronal ceroid lipofuscinosis type 11
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Neuronal ceroid lipofuscinosis type 11
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11
• \Disease\Disorder of body system\Disorder 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\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11
• \Disease\Disorder of body system\Disorder 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\Neuronal ceroid lipofuscinosis type 11
• \Disease\Disorder of body system\Disorder 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\Neuronal ceroid lipofuscinosis type 11
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Neuronal ceroid lipofuscinosis type 11
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Neuronal ceroid lipofuscinosis type 11
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Neuronal ceroid lipofuscinosis type 11
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Neuronal ceroid lipofuscinosis type 11
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Neuronal ceroid lipofuscinosis type 11
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11
• \Disease\Metabolic disease\Chronic metabolic disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11
• \Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11
• \Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11
• \Disease\Chronic disease\Chronic metabolic disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 11

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Oct 2025. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5483419011	Neuronal ceroid lipofuscinosis type 11	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5483420017	NCL11 - neuronal ceroid lipofuscinosis type 11	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5483421018	Neuronal ceroid lipofuscinosis type 11 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5483422013	A rare neuronal ceroid lipofuscinosis characterised by adulthood-onset (13-25 years-few exceptions of earlier onset were reported) retinal dystrophy (notably retinitis pigmentosa), and cerebellar ataxia with progressive cerebellar atrophy. Generalised tonic-clonic epilepsy, myoclonus, dystonia and cognitive decline are frequently observed whereas visual hallucinations, pyramidal syndrome and parkinsonism may be present in some patients. Disease progression may be slower compared to other ceroid lipofuscinosis diseases.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5483423015	A rare neuronal ceroid lipofuscinosis characterized by adulthood-onset (13-25 years-few exceptions of earlier onset were reported) retinal dystrophy (notably retinitis pigmentosa), and cerebellar ataxia with progressive cerebellar atrophy. Generalized tonic-clonic epilepsy, myoclonus, dystonia and cognitive decline are frequently observed whereas visual hallucinations, pyramidal syndrome and parkinsonism may be present in some patients. Disease progression may be slower compared to other ceroid lipofuscinosis diseases.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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