Preferred Name |
Trisomy |
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#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 |
C3421 |
prefLabel |
Trisomy |
Semantic_Type |
Cell or Molecular Dysfunction |
UMLS_CUI |
C0041107 |
subClassOf |