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An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Chromosome Disorder
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Chromosome Disorder
UMLS_CUI
  • C0008626
ALT_DEFINITION
  • clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material, either a whole chromosome or a chromosome segment.CSP2003
  • Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)MSH2003_2003_05_12
Legacy_Concept_Name
  • Chromosome_Disorder
FULL_SYN
  • Chromosome DisorderPTNCI
  • Chromosome Abnormality DisorderSYNCI
DEFINITION
  • A disorder that results from a chromosomal abnormality.NCI
code
  • C34470
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