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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/D056735
http://purl.bioontology.org/ontology/MESH/D056735
|
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Preferred Name | Autoimmune Lymphoproliferative Syndrome |
Definitions |
Autoimmune lymphoproliferative syndrome due to mutations in CASPASE 8 gene.
Rare congenital lymphoid disorder due to mutations in certain Fas-Fas ligand pathway genes. Known causes include mutations in FAS, TNFSF6, NRAS, CASP8, and CASP10 proteins. Clinical features include LYMPHADENOPATHY; SPLENOMEGALY; and AUTOIMMUNITY.
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Synonyms |
Canale Smith Syndrome
Syndrome, Canale-Smith
Caspase 8 Deficiencies
Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant
Autoimmune Lymphoproliferative Syndrome Type 2B
Deficiencies, Caspase-8
Caspase-8 Deficiency
Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant
Lymphoproliferative Syndrome, Autoimmune
Caspase 8 Deficiency
Canale-Smith Syndrome
Syndrome, Autoimmune Lymphoproliferative
Autoimmune Lymphoproliferative Syndrome, Type IIb
Deficiencies, Caspase 8
Autoimmune Lymphoproliferative Syndrome Type 2B (ALPS2B)
Deficiency, Caspase 8
Syndromes, Autoimmune Lymphoproliferative
Lymphoproliferative Syndromes, Autoimmune
Caspase-8 Deficiencies
Syndromes, Canale-Smith
Deficiency, Caspase-8
Canale-Smith Syndromes
Autoimmune Lymphoproliferative Syndromes
Syndrome, Canale Smith
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
definition | Autoimmune lymphoproliferative syndrome due to mutations in CASPASE 8 gene. Rare congenital lymphoid disorder due to mutations in certain Fas-Fas ligand pathway genes. Known causes include mutations in FAS, TNFSF6, NRAS, CASP8, and CASP10 proteins. Clinical features include LYMPHADENOPATHY; SPLENOMEGALY; and AUTOIMMUNITY. |
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altLabel |
Canale Smith Syndrome
Syndrome, Canale-Smith
Caspase 8 Deficiencies
Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant
Autoimmune Lymphoproliferative Syndrome Type 2B
Deficiencies, Caspase-8
Caspase-8 Deficiency
Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant
Lymphoproliferative Syndrome, Autoimmune
Caspase 8 Deficiency
Canale-Smith Syndrome
Syndrome, Autoimmune Lymphoproliferative
Autoimmune Lymphoproliferative Syndrome, Type IIb
Deficiencies, Caspase 8
Autoimmune Lymphoproliferative Syndrome Type 2B (ALPS2B)
Deficiency, Caspase 8
Syndromes, Autoimmune Lymphoproliferative
Lymphoproliferative Syndromes, Autoimmune
Caspase-8 Deficiencies
Syndromes, Canale-Smith
Deficiency, Caspase-8
Canale-Smith Syndromes
Autoimmune Lymphoproliferative Syndromes
Syndrome, Canale Smith
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prefLabel | Autoimmune Lymphoproliferative Syndrome
|
TH |
OMIM (2013)
NLM (2010)
GHR (2014)
ORD (2010)
|
notation | D056735
|
DX | 20100101
|
Machine permutation | 2010
|
MN |
C20.111.288
C16.320.089
C20.683.515.124
C15.604.515.138
|
FX |
D019014
D053181
D053450
D053455
|
MMR | 20170717
|
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
|
HN | 2010
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subClassOf | |
Semantic type UMLS property | |
DC | 1
|
MDA | 20090706
|
Inverse of RO | |
type | |
tui | T047
|
cui |
C1328840
C2717884
C1846545
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Inverse of AQ |
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TERMUI |
T734564
T812547
T000903211
T734031
T812546
T735248
T734032
T746514
T734036
T734037
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Subject | Author | Type | Class | Created |
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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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