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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
  • Down Syndrome
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Down Syndrome
UMLS_CUI
  • C0013080
Contributing_Source
  • NICHD
ALT_DEFINITION
  • A disorder caused by the presence of an extra chromosome 21 and characterized by mental retardation and distinguishing physical features.NCI-GLOSS
Legacy_Concept_Name
  • Down_Syndrome
FULL_SYN
  • Down SyndromePTNCI
  • Trisomy 21 (Down Syndrome)SYNCI
  • Down SyndromePTNICHD
  • Down syndromePTNCI-GLOSSCDR0000045488
  • Trisomy 21 SyndromeSYNCI
DEFINITION
  • A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. Down syndrome occurs in approximately 1:700 live births. Abnormalities are variable from individual to individual and may include mental retardation, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set ears with prominent antihelix, fissured and thickened tongue, laxness of joint ligaments, pelvic dysplasia, broad hands and feet, stubby fingers, transverse palmar crease, lenticular opacities and heart disease. Patients with Down syndrome have an estimated 10 to 30-fold increased risk for leukemia; most have symptoms of Alzheimer's disease by age 40. Also known as trisomy 21 syndrome.NCI
code
  • C2993
is someValuesFrom of
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