1373773007: Neuronal ceroid lipofuscinosis type 6 (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 6 (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 6 (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 6 (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 6 (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 6 (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 6 (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 6 (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 6 (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 6 (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 6 (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 6 (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 6 (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 6 (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 6 (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Neuronal ceroid lipofuscinosis type 6 (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Neuronal ceroid lipofuscinosis type 6 (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 6 (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 6 (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 6 (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 6 (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 6 (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 6 (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 6 (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 6 (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 6 (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 6 (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 6 (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 6 (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 6 (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 6 (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 6 (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 6 (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 6 (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 6 (disorder)
\Disease\Metabolic disease\Chronic metabolic disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 6 (disorder)
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 6 (disorder)
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 6 (disorder)
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Lipofuscinosis\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 6 (disorder)
\Disease\Chronic disease\Chronic metabolic disorder\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 6 (disorder)
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Neuronal ceroid lipofuscinosis\Neuronal ceroid lipofuscinosis type 6 (disorder)
\Disease\Developmental disorder\Developmental regression\Neuronal ceroid lipofuscinosis type 6 (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Neuronal ceroid lipofuscinosis type 6 (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

5483409017 Neuronal ceroid lipofuscinosis type 6 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5483410010 Neuronal ceroid lipofuscinosis type 6 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5483411014 NCL6 - neuronal ceroid lipofuscinosis type 6 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5483412019 A rare neuronal ceroid lipofuscinosis characterized by developmental and motor regression, seizures, ataxia, intellectual disability, delayed global development, speech and language, spasticity, and hypotonia. Visual impairment is not always present. It may present with late infantile (5-7 years), juvenile (4-8 years) or adult-onset (30 years). Progressive myoclonus epilepsy, with myoclonic and tonic-clonic seizures, limb weakness, dysarthria are mainly associated with the adult-onset form of the disease and these patients commonly have photosensitivity (sometimes extreme) whereas vision loss is infrequent. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5483413012 A rare neuronal ceroid lipofuscinosis characterised by developmental and motor regression, seizures, ataxia, intellectual disability, delayed global development, speech and language, spasticity, and hypotonia. Visual impairment is not always present. It may present with late infantile (5-7 years), juvenile (4-8 years) or adult-onset (30 years). Progressive myoclonus epilepsy, with myoclonic and tonic-clonic seizures, limb weakness, dysarthria are mainly associated with the adult-onset form of the disease and these patients commonly have photosensitivity (sometimes extreme) whereas vision loss is infrequent. 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 6 (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Neuronal ceroid lipofuscinosis type 6 (disorder)	Is a	Neuronal ceroid lipofuscinosis	true	Inferred relationship	Some
Neuronal ceroid lipofuscinosis type 6 (disorder)	Is a	Developmental regression	true	Inferred relationship	Some
Neuronal ceroid lipofuscinosis type 6 (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Neuronal ceroid lipofuscinosis type 6 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Neuronal ceroid lipofuscinosis type 6 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Neuronal ceroid lipofuscinosis type 6 (disorder)	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
Neuronal ceroid lipofuscinosis type 6 (disorder)	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	4
Neuronal ceroid lipofuscinosis type 6 (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Neuronal ceroid lipofuscinosis type 6A (disorder)	Is a	True	Neuronal ceroid lipofuscinosis type 6 (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
5483409017	Neuronal ceroid lipofuscinosis type 6 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5483410010	Neuronal ceroid lipofuscinosis type 6	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5483411014	NCL6 - neuronal ceroid lipofuscinosis type 6	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5483412019	A rare neuronal ceroid lipofuscinosis characterized by developmental and motor regression, seizures, ataxia, intellectual disability, delayed global development, speech and language, spasticity, and hypotonia. Visual impairment is not always present. It may present with late infantile (5-7 years), juvenile (4-8 years) or adult-onset (30 years). Progressive myoclonus epilepsy, with myoclonic and tonic-clonic seizures, limb weakness, dysarthria are mainly associated with the adult-onset form of the disease and these patients commonly have photosensitivity (sometimes extreme) whereas vision loss is infrequent.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5483413012	A rare neuronal ceroid lipofuscinosis characterised by developmental and motor regression, seizures, ataxia, intellectual disability, delayed global development, speech and language, spasticity, and hypotonia. Visual impairment is not always present. It may present with late infantile (5-7 years), juvenile (4-8 years) or adult-onset (30 years). Progressive myoclonus epilepsy, with myoclonic and tonic-clonic seizures, limb weakness, dysarthria are mainly associated with the adult-onset form of the disease and these patients commonly have photosensitivity (sometimes extreme) whereas vision loss is infrequent.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core