OMOP Concept 37472165
Neuronal ceroid lipofuscinosis type 2
StandardConditionSNOMED1373561009Disorder
Maps from
0
Descendants
0
Valid from
1 Oct 2025
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Neuronal ceroid lipofuscinosis type 2 across source vocabularies.
- CLN2 disease
- CLN2 disease due to TPP1 mutation
- enfermedad LCN2
- enfermedad LCN2 debida a mutación de TPP1
- LCN2 - lipofuscinosis ceroide neuronal tipo 2
- lipofuscinosis ceroidea neuronal tipo 2
- lipofuscinosis ceroide neuronal tipo 2
- lipofuscinosis ceroide neuronal tipo 2 (trastorno)
- NCL2 - neuronal ceroid lipofuscinosis type 2
- Neuronal ceroid lipofuscinosis type 2 (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(50)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Developmental hereditary disorder
- 1Neurodevelopmental delay
- 1Neuronal ceroid lipofuscinosis
- 1Progressive myoclonic epilepsy
- 2Autosomal hereditary disorder
- 2Chronic brain syndrome
- 2Chronic metabolic disorder
- 2Degenerative brain disorder
- 2Developmental delay
- 2Developmental disorder
- 2Epilepsy syndrome with progressive neurological deterioration
- 2Hereditary degenerative disease of central nervous system
- 2Hereditary disease
- 2Inherited metabolic disorder of nervous system
- 2Lipofuscinosis
- 2Lysosomal storage disease
- 2Neurodevelopmental disorder
- 3Chronic disease
- 3Chronic nervous system disorder
- 3Degenerative disease of the central nervous system
- 3Disease
- 3Disorder of brain
- 3Disorder of lipoprotein AND/OR lipid metabolism
- 3Disorder of lysosomal enzyme
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