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AttributesValues
rdf:type
rdfs:label
  • Numerical Chromosomal Abnormality
rdfs:subClassOf
Semantic_Type
  • Cell or Molecular Dysfunction
Preferred_Name
  • Numerical Chromosomal Abnormality
UMLS_CUI
  • C1518472
ALT_DEFINITION
  • chromosomal constitution of cells which deviate from the normal by the addition or subtraction of chromosomes or chromosome pairs.CSP2003
  • The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of chromosomes or chromosome pairs. In a normally diploid cell the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is monosomy (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is trisomy (symbol: 2N+1).MSH2003_2003_05_12
Legacy_Concept_Name
  • Numerical_Chromosome_Aberration
FULL_SYN
  • Numerical Chromosomal AbnormalityPTNCI
  • Numerical Chromosomal AbnormalitiesSYNCI
  • Numerical Chromosome AnomalySYNCI
  • Numerical Chromosome AnomaliesSYNCI
  • Numerical Chromosome AberrationSYNCI
DEFINITION
  • An irregularity in the number of chromosomes.NCI
code
  • C6825
is rdfs:subClassOf of
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