Preferred Name | Trisomy | |
Synonyms |
|
|
Definitions |
A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number. |
|
ID |
http://purl.obolibrary.org/obo/NCIT_C3421 |
|
ALT_DEFINITION |
The presence of an extra chromosome, resulting in a total of three copies of that chromosome instead of the normal 2 copies (e.g., trisomy 21, or Down syndrome). |
|
code |
C3421 |
|
definition |
A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number. |
|
label |
Trisomy |
|
Legacy Concept Name |
Trisomy |
|
Preferred_Name |
Trisomy |
|
prefixIRI |
NCIT:C3421 |
|
prefLabel |
Trisomy |
|
Semantic_Type |
Cell or Molecular Dysfunction |
|
UMLS_CUI |
C0041107 |
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subClassOf |
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