loading...| Preferred Name |
神经元蜡样脂褐质贮积症 / Neuronal ceroid lipofuscinosis |
| Definitions |
Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina. |
| ID |
http://purl.bmicc.cn/ontology/ICD11CN/5C56.1 |
| definition |
Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina. |
| hasDbXref | |
| label |
神经元蜡样脂褐质贮积症 / Neuronal ceroid lipofuscinosis |
| mappingRelation | |
| notation |
5C56.1 |
| prefixIRI |
ICD11CN:C56.1 |
| prefLabel |
神经元蜡样脂褐质贮积症 / Neuronal ceroid lipofuscinosis |
| subClassOf |