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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
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| Preferred Name | Leukodystrophy, Metachromatic [Disease/Finding] | |
| Synonyms |
Cerebroside Sulphatase Deficiency Disease Cerebral sclerosis, Diffuse, Metachromatic Form Sulfatide Lipidosis Metachromatic Leukodystrophy Arylsulfatase A Deficiency Disease Leukodystrophy, Metachromatic Metachromatic Leukoencephalopathy |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000001834 |
|
| altLabel |
Cerebroside Sulphatase Deficiency Disease Cerebral sclerosis, Diffuse, Metachromatic Form Sulfatide Lipidosis Metachromatic Leukodystrophy Arylsulfatase A Deficiency Disease Leukodystrophy, Metachromatic Metachromatic Leukoencephalopathy
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| cui |
C0023522
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| MESH DEFINITION |
An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms.
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| MESH DUI |
D007966
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|
| MeSH name |
Leukodystrophy, Metachromatic
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| MESH UI |
M0012416
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|
| NDFRT kind |
DISEASE_KIND
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|
| notation |
N0000001834
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|
| NUI |
N0000001834
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|
| prefLabel |
Leukodystrophy, Metachromatic [Disease/Finding]
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| SNOMED CID |
238031009 66521008 396338004
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| tui |
T047
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| subClassOf |
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