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Last uploaded:
January 16, 2025
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Id | http://purl.bioontology.org/ontology/MESH/D058165
http://purl.bioontology.org/ontology/MESH/D058165
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Preferred Name | 22q11 Deletion Syndrome |
Definitions |
Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.
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Synonyms |
Deletion Syndromes, 22q11
Deletion Syndrome, 22q11
22q11 Deletion Syndromes
Syndromes, 22q11 Deletion
Syndrome, 22q11 Deletion
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
definition | Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome. |
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altLabel |
Deletion Syndromes, 22q11
Deletion Syndrome, 22q11
22q11 Deletion Syndromes
Syndromes, 22q11 Deletion
Syndrome, 22q11 Deletion
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prefLabel |
22q11 Deletion Syndrome
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TH |
NLM (2011)
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notation |
D058165
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DX |
20110101
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Machine permutation |
2011
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MN |
C16.131.260.019
C14.280.400.044
C15.604.451.249
C16.320.180.019
C16.131.482.249
C05.660.207.103
C19.642.482.500
C16.131.240.400.021
C16.131.077.019
C16.131.621.207.103
C14.240.400.021
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MMR |
19550101
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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 |
2011
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subClassOf |
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Semantic type UMLS property | |
DC |
1
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MDA |
20100625
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type | |
tui |
T047
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cui |
C2936346
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Inverse of AQ |
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TERMUI |
T764917
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