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Medical Subject Headings
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/MESH/D020140
http://purl.bioontology.org/ontology/MESH/D020140
|
|---|---|
| Preferred Name | Lysosomal Storage Diseases, Nervous System |
| Definitions |
A group of enzymatic disorders affecting the nervous system and to a variable degree the skeletal system, lymphoreticular system, and other organs. The conditions are marked by an abnormal accumulation of catabolic material within lysosomes.
|
| Synonyms |
Nervous System Lysosomal Enzyme Disorders
Nervous System Lysosomal Storage Diseases
Lysosomal Enzyme Disorders, Nervous System
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A group of enzymatic disorders affecting the nervous system and to a variable degree the skeletal system, lymphoreticular system, and other organs. The conditions are marked by an abnormal accumulation of catabolic material within lysosomes. |
|---|---|
| altLabel |
Nervous System Lysosomal Enzyme Disorders
Nervous System Lysosomal Storage Diseases
Lysosomal Enzyme Disorders, Nervous System
|
| prefLabel |
Lysosomal Storage Diseases, Nervous System
|
| TH |
NLM (2000)
|
| notation |
D020140
|
| DX |
20000101
|
| Machine permutation |
2000
|
| MN |
C18.452.132.100.435
C18.452.648.189.435
C18.452.648.595.554
C10.228.140.163.100.435
C16.320.565.189.435
C16.320.565.595.554
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|
| MMR |
20060705
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
|
| HN |
2000
|
| subClassOf | |
| Semantic type UMLS property | |
| DC |
1
|
| MDA |
19991103
|
| type | |
| tui |
T047
|
| cui |
C0751738
|
| AN |
general or unspecified; prefer specifics
|
| Inverse of AQ |
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|
| TERMUI |
T358120
T369112
T369111
T369110
|
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