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Medical Subject Headings
Last uploaded:
January 16, 2025
Acronym | MESH |
Visibility | Public |
Description | Medical Subject Headings (MeSH);National Library of Medicine; 2011 |
Status | Production |
Format | UMLS |
Contact | NLM Customer Service, custserv@nlm.nih.gov |
Categories | Health |
Groups | Unified Medical Language System |
License Information | This ontology is made available via the UMLS. Users of all UMLS ontologies must abide by the terms of the UMLS license. |
Version | Released | Uploaded | Downloads |
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MSH2025_2024_08_19 (Parsed, Indexed, Metrics, Annotator, Error Diff) | 11/04/2024 | 01/16/2025 | RDF/TTL | CSV |
2024AA (Archived) | 05/06/2024 | 08/28/2024 | RDF/TTL |
2023AB (Archived) | 11/06/2023 | 01/31/2024 | RDF/TTL |
2023AA (Archived) | 04/01/2023 | 08/07/2023 | RDF/TTL |
2022AB (Archived) | 11/07/2022 | 01/06/2023 | RDF/TTL |
2022AA (Archived) | 05/02/2022 | 06/10/2022 | RDF/TTL |
2021AB (Archived) | 11/01/2021 | 11/18/2021 | RDF/TTL |
2021AA (Archived) | 04/03/2021 | 05/20/2021 | RDF/TTL |
2020AB (Archived) | 11/02/2020 | 01/06/2021 | RDF/TTL |
2020AA (Archived) | 05/04/2018 | 09/24/2020 | RDF/TTL |
2019AB (Archived) | 11/04/2019 | 11/18/2019 | RDF/TTL |
2019AA (Archived) | 05/06/2019 | 08/27/2019 | RDF/TTL |
2018AB (Archived) | 11/05/2018 | 04/29/2019 | RDF/TTL |
2018AA (Archived) | 05/07/2018 | 07/06/2018 | RDF/TTL |
2017AB (Archived) | 11/06/2017 | 07/06/2018 | RDF/TTL |
2017AA (Archived) | 05/08/2017 | 04/06/2018 | RDF/TTL |
2016AB (Archived) | 02/06/2017 | 02/06/2017 | RDF/TTL |
2016AA (Archived) | 09/06/2016 | 09/06/2016 | RDF/TTL |
2015AB (Archived) | 07/20/2016 | 07/20/2016 | RDF/TTL |
2015AA (Archived) | 06/09/2015 | 06/09/2015 | RDF/TTL |
2014AB (Archived) | 01/29/2015 | 01/29/2015 | RDF/TTL |
2014AA (Archived) | 05/28/2014 | 07/07/2014 | RDF/TTL |
2014AA (Archived) | 05/28/2014 | 05/28/2014 | RDF/TTL |
2013AB (Archived) | 02/18/2014 | 02/18/2014 | RDF/TTL |
2013AA (Archived) | 01/14/2014 | 01/14/2014 | RDF/TTL |
2013AA (Archived) | 05/08/2013 | 09/25/2013 | RDF/TTL |
2011_2010_08_30 (Archived) | 08/30/2010 | 11/09/2010 | RDF/TTL |
2010_2009_08_17 (Archived) | 08/17/2009 | 01/08/2010 | RDF/TTL |
2009_2009_02_13 (Archived) | 02/13/2009 | 07/31/2009 | RDF/TTL |
more... |
- Thesaurus Biomedical Francais/Anglais [French translation of MeSH]
- Thesaurus Biomedical Francais/Anglais (French translation of the Medical Subject Headings)
Classes | 355,057 |
Individuals | 0 |
Properties | 37 |
Maximum depth | 18 |
Maximum number of children | 118 |
Average number of children | 4 |
Classes with a single child | 3,565 |
Classes with more than 25 children | 171 |
Classes with no definition | 324,173 |
Jump to:
Id | http://purl.bioontology.org/ontology/MESH/D007965
http://purl.bioontology.org/ontology/MESH/D007965
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Preferred Name | Leukodystrophy, Globoid Cell |
Definitions |
An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses.
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Synonyms |
Krabbe Disease
Leukoencephalopathies, Globoid Cell
Leukodystrophies, Globoid
Globoid Cell Leukodystrophies
Globoid Cell Leukoencephalopathy
Galactosylceramide beta-Galactosidase Deficiency
Krabbe's Disease
Disease, Galactosylceramide-beta-Galactosidase Deficiency
Globoid Cell Leukoencephalopathies
Deficiency Disease, Galactosylceramidase
Leukoencephalopathy, Globoid Cell
Globoid Cell Leukodystrophy
Globoid Leukodystrophy
Leukodystrophy, Krabbe's
Leukodystrophies, Globoid Cell
Krabbe Leukodystrophy
Deficiencies, Galactocerebrosidase
Deficiency Diseases, Galactosylceramide-beta-Galactosidase
Galactosylceramide beta Galactosidase Deficiency
Early-Onset Globoid Cell Leukodystrophy
Deficiency Disease, Galactosylceramide-beta-Galactosidase
Galactosylceramide beta-Galactosidase Deficiencies
Cell Leukodystrophies, Globoid
Galactosylceramide-beta-Galactosidase Deficiency Disease
Galactosylceramide Lipidosis
Galactosylceramidase Deficiency Diseases
Deficiency, GALC
Galactocerebrosidase Deficiency
Cell Leukoencephalopathy, Globoid
Galactosylceramide-beta-Galactosidase Deficiency Diseases
Cell Leukoencephalopathies, Globoid
Leukodystrophy, Globoid Cell, Early-Onset
Galactosylceramide beta Galactosidase Deficiency Disease
Krabbes Disease
Late-Onset Globoid Cell Leukodystrophy
Late Onset Globoid Cell Leukodystrophy
beta-Galactosidase Deficiencies, Galactosylceramide
Early Onset Globoid Cell Leukodystrophy
Cell Leukodystrophy, Globoid
Galactosylsphingosine Lipidosis
Classic Globoid Cell Leukodystrophy
Deficiency, Galactocerebrosidase
Disease, Galactosylceramidase Deficiency
beta-Galactosidase Deficiency, Galactosylceramide
Deficiencies, GALC
Leukodystrophy, Globoid Cell, Classic
Galactosylcerebrosidase Deficiency
Diseases, Galactosylceramidase Deficiency
Diffuse Globoid Body Sclerosis
Leukodystrophy, Krabbe
Krabbe's Leukodystrophy
Krabbes Leukodystrophy
Psychosine Lipidosis
Leukodystrophy, Globoid
Galactocerebrosidase Deficiencies
Globoid Body Sclerosis, Diffuse
Deficiencies, Galactosylceramide beta-Galactosidase
GALC Deficiencies
Diseases, Galactosylceramide-beta-Galactosidase Deficiency
Globoid Leukodystrophies
Deficiency, Galactosylceramide beta-Galactosidase
GALC Deficiency
Galactosylceramidase Deficiency Disease
Leukodystrophy, Globoid Cell, Late-Onset
Leukodystrophy, Globoid Cell, Infantile
Infantile Globoid Cell Leukodystrophy
Deficiency Diseases, Galactosylceramidase
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
definition | An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses. |
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altLabel |
Krabbe Disease
Leukoencephalopathies, Globoid Cell
Leukodystrophies, Globoid
Globoid Cell Leukodystrophies
Globoid Cell Leukoencephalopathy
Galactosylceramide beta-Galactosidase Deficiency
Krabbe's Disease
Disease, Galactosylceramide-beta-Galactosidase Deficiency
Globoid Cell Leukoencephalopathies
Deficiency Disease, Galactosylceramidase
Leukoencephalopathy, Globoid Cell
Globoid Cell Leukodystrophy
Globoid Leukodystrophy
Leukodystrophy, Krabbe's
Leukodystrophies, Globoid Cell
Krabbe Leukodystrophy
Deficiencies, Galactocerebrosidase
Deficiency Diseases, Galactosylceramide-beta-Galactosidase
Galactosylceramide beta Galactosidase Deficiency
Early-Onset Globoid Cell Leukodystrophy
Deficiency Disease, Galactosylceramide-beta-Galactosidase
Galactosylceramide beta-Galactosidase Deficiencies
Cell Leukodystrophies, Globoid
Galactosylceramide-beta-Galactosidase Deficiency Disease
Galactosylceramide Lipidosis
Galactosylceramidase Deficiency Diseases
Deficiency, GALC
Galactocerebrosidase Deficiency
Cell Leukoencephalopathy, Globoid
Galactosylceramide-beta-Galactosidase Deficiency Diseases
Cell Leukoencephalopathies, Globoid
Leukodystrophy, Globoid Cell, Early-Onset
Galactosylceramide beta Galactosidase Deficiency Disease
Krabbes Disease
Late-Onset Globoid Cell Leukodystrophy
Late Onset Globoid Cell Leukodystrophy
beta-Galactosidase Deficiencies, Galactosylceramide
Early Onset Globoid Cell Leukodystrophy
Cell Leukodystrophy, Globoid
Galactosylsphingosine Lipidosis
Classic Globoid Cell Leukodystrophy
Deficiency, Galactocerebrosidase
Disease, Galactosylceramidase Deficiency
beta-Galactosidase Deficiency, Galactosylceramide
Deficiencies, GALC
Leukodystrophy, Globoid Cell, Classic
Galactosylcerebrosidase Deficiency
Diseases, Galactosylceramidase Deficiency
Diffuse Globoid Body Sclerosis
Leukodystrophy, Krabbe
Krabbe's Leukodystrophy
Krabbes Leukodystrophy
Psychosine Lipidosis
Leukodystrophy, Globoid
Galactocerebrosidase Deficiencies
Globoid Body Sclerosis, Diffuse
Deficiencies, Galactosylceramide beta-Galactosidase
GALC Deficiencies
Diseases, Galactosylceramide-beta-Galactosidase Deficiency
Globoid Leukodystrophies
Deficiency, Galactosylceramide beta-Galactosidase
GALC Deficiency
Galactosylceramidase Deficiency Disease
Leukodystrophy, Globoid Cell, Late-Onset
Leukodystrophy, Globoid Cell, Infantile
Infantile Globoid Cell Leukodystrophy
Deficiency Diseases, Galactosylceramidase
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prefLabel | Leukodystrophy, Globoid Cell
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TH |
OMIM (2013)
NLM (2000)
UNK (19XX)
NLM (2010)
GHR (2014)
NLM (1998)
NLM (2007)
NLM (1974)
ORD (2010)
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notation | D007965
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DX | 19740101
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Machine permutation | 1974; see CEREBRAL SCLEROSIS, DIFFUSE 1963-1973; for LEUKODYSTROPHIES see CEREBRAL SCLEROSIS, DIFFUSE 1963-1973; for KRABBE DISEASE see KRABBE'S DISEASE 1974-1997
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MN |
C18.452.584.563.641.803.585
C18.452.648.595.554.825.590
C18.452.648.189.435.825.590
C18.452.648.398.641.803.585
C10.228.140.163.100.435.825.590
C16.320.565.189.362.500
C16.320.565.189.435.825.590
C18.452.132.100.435.825.590
C16.320.565.595.554.825.590
C18.452.648.189.362.500
C18.452.132.100.362.500
C16.320.565.398.641.803.585
C10.314.400.500
C10.228.140.163.100.362.500
C10.228.140.695.625.500
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FX | D005698
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MMR | 20210701
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Mapped from | |
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
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HN | 1974(1963)
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subClassOf | |
Semantic type UMLS property | |
DC | 1
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MDA | 19990101
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Inverse of RO | |
type | |
tui | T047
|
cui |
C0751273
C0268252
C0023521
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Inverse of AQ |
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TERMUI |
T368950
T647487
T023743
T368942
T749760
T841839
T368952
T368953
T368949
T023745
T368931
T368944
T811705
T023744
T817359
T368943
T368930
T368941
T368933
T368940
T368951
T368945
T841841
T841838
T841840
T368946
T817360
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Missing Publication Format | kglibrarian | Comment | 2022-11-01 | |
The RDF format of MeSH is inaccessible | AAmina | Comment | 2015-03-08 |
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