1375924007: Neuronal ceroid lipofuscinosis type 10 (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 10 (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 10 (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 10 (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 10 (disorder)

\Finding related to coordination / incoordination (finding)\Ataxia\Hereditary ataxia (disorder)\Neuronal ceroid lipofuscinosis type 10 (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 10 (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 10 (disorder)
\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 10 (disorder)
\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 10 (disorder)
\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 10 (disorder)
\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 10 (disorder)

\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 10 (disorder)
\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 10 (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Neuronal ceroid lipofuscinosis type 10 (disorder)
\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 10 (disorder)
\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 10 (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Neuronal ceroid lipofuscinosis type 10 (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Neuronal ceroid lipofuscinosis type 10 (disorder)
\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 10 (disorder)
\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 10 (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 10 (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 10 (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 10 (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Neuronal ceroid lipofuscinosis type 10 (disorder)
\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 10 (disorder)
\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 10 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Neuronal ceroid lipofuscinosis type 10 (disorder)
\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 10 (disorder)
\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 10 (disorder)
\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 10 (disorder)
\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 10 (disorder)
\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 10 (disorder)
\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 10 (disorder)
\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 10 (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 10 (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 10 (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 10 (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 10 (disorder)
\Disease\Metabolic disease\Chronic metabolic disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 10 (disorder)
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 10 (disorder)
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 10 (disorder)
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 10 (disorder)
\Disease\Chronic disease\Chronic metabolic disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 10 (disorder)
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 10 (disorder)
\Disease\Developmental disorder\Developmental regression\Neuronal ceroid lipofuscinosis type 10 (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Neuronal ceroid lipofuscinosis type 10 (disorder)

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

5488315015 Neuronal ceroid lipofuscinosis type 10 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5488316019 CLN10 disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5488317011 NCL10 - neuronal ceroid lipofuscinosis type 10 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5488318018 Neuronal ceroid lipofuscinosis type 10 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5488319014 A rare neuronal ceroid lipofuscinosis characterized by motor, cognitive and developmental regression with speech impairment, ataxia, limb weakness, visual impairment (notably retinitis pigmentosa), dysarthria and prosopagnosia. It may present with congenital (the most commonly observed form of the disease), late infantile (3 years) and juvenile-onset (4-8 years), and later stages into adulthood. Congenital form is associated with immediate postnatal onset of epileptic seizures, respiratory failure and limb hypertonia. Neonates have microcephaly with severe atrophy of the cerebrum and cerebellum with myelin deficiency, and retinal dysfunction. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5488320015 A rare neuronal ceroid lipofuscinosis characterised by motor, cognitive and developmental regression with speech impairment, ataxia, limb weakness, visual impairment (notably retinitis pigmentosa), dysarthria and prosopagnosia. It may present with congenital (the most commonly observed form of the disease), late infantile (3 years) and juvenile-onset (4-8 years), and later stages into adulthood. Congenital form is associated with immediate postnatal onset of epileptic seizures, respiratory failure and limb hypertonia. Neonates have microcephaly with severe atrophy of the cerebrum and cerebellum with myelin deficiency, and retinal dysfunction. 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
Neuronal ceroid lipofuscinosis type 10 (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Neuronal ceroid lipofuscinosis type 10 (disorder)	Is a	Neuronal ceroid lipofuscinosis	true	Inferred relationship	Some
Neuronal ceroid lipofuscinosis type 10 (disorder)	Is a	Developmental regression	true	Inferred relationship	Some
Neuronal ceroid lipofuscinosis type 10 (disorder)	Is a	Hereditary ataxia (disorder)	true	Inferred relationship	Some
Neuronal ceroid lipofuscinosis type 10 (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Neuronal ceroid lipofuscinosis type 10 (disorder)	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2
Neuronal ceroid lipofuscinosis type 10 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
Neuronal ceroid lipofuscinosis type 10 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Neuronal ceroid lipofuscinosis type 10 (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	1
Neuronal ceroid lipofuscinosis type 10 (disorder)	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder)	Is a	True	Neuronal ceroid lipofuscinosis type 10 (disorder)	Inferred relationship	Some

Reference Sets

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5488315015	Neuronal ceroid lipofuscinosis type 10 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5488316019	CLN10 disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5488317011	NCL10 - neuronal ceroid lipofuscinosis type 10	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5488318018	Neuronal ceroid lipofuscinosis type 10	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5488319014	A rare neuronal ceroid lipofuscinosis characterized by motor, cognitive and developmental regression with speech impairment, ataxia, limb weakness, visual impairment (notably retinitis pigmentosa), dysarthria and prosopagnosia. It may present with congenital (the most commonly observed form of the disease), late infantile (3 years) and juvenile-onset (4-8 years), and later stages into adulthood. Congenital form is associated with immediate postnatal onset of epileptic seizures, respiratory failure and limb hypertonia. Neonates have microcephaly with severe atrophy of the cerebrum and cerebellum with myelin deficiency, and retinal dysfunction.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5488320015	A rare neuronal ceroid lipofuscinosis characterised by motor, cognitive and developmental regression with speech impairment, ataxia, limb weakness, visual impairment (notably retinitis pigmentosa), dysarthria and prosopagnosia. It may present with congenital (the most commonly observed form of the disease), late infantile (3 years) and juvenile-onset (4-8 years), and later stages into adulthood. Congenital form is associated with immediate postnatal onset of epileptic seizures, respiratory failure and limb hypertonia. Neonates have microcephaly with severe atrophy of the cerebrum and cerebellum with myelin deficiency, and retinal dysfunction.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core