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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
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| Id | http://purl.bioontology.org/ontology/NDFRT/N0000002178
http://purl.bioontology.org/ontology/NDFRT/N0000002178
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|---|---|
| Preferred Name | Neuronal Ceroid-Lipofuscinoses [Disease/Finding] |
| Synonyms |
Ceroid-Lipofuscinosis, Neuronal
Neuronal Ceroid Lipofuscinosis
Ceroid Storage Disease
Neuronal Ceroid-Lipofuscinosis
Neuronal Ceroid-Lipofuscinoses
Lipofuscinosis, Neuronal Ceroid
Lipofuscin Storage Disease
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Ceroid-Lipofuscinosis, Neuronal
Neuronal Ceroid Lipofuscinosis
Ceroid Storage Disease
Neuronal Ceroid-Lipofuscinosis
Neuronal Ceroid-Lipofuscinoses
Lipofuscinosis, Neuronal Ceroid
Lipofuscin Storage Disease
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|
|---|---|
| prefLabel |
Neuronal Ceroid-Lipofuscinoses [Disease/Finding]
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| notation |
N0000002178
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| May be treated by | |
| MESH DEFINITION |
A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure.
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| MESH UI |
M0014734
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| subClassOf | |
| Semantic type UMLS property | |
| MeSH name |
Neuronal Ceroid-Lipofuscinoses
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| NDFRT kind |
DISEASE_KIND
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| type | |
| SNOMED CID |
42012007
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| tui |
T047
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| NUI |
N0000002178
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| cui |
C0027877
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| MESH DUI |
D009472
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