A total autosomal trisomy that is caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, neurosensorial or endocrine defects.

Synonyms: Trisomy 21

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C0013080 (E (exact mapping (the terms and the concepts are equivalent)))
  • OMIM:190685 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:Q90.1 (BTNT (broader term maps to a narrower term))
  • ICD-10:Q90.1 (Specific code (The term has its own code in the ICD10))
  • MedDRA:10044688 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:Q90.0 (Specific code (The term has its own code in the ICD10))
  • ICD-10:Q90.9 (Specific code (The term has its own code in the ICD10))
  • MeSH:D004314 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:Q90.0 (BTNT (broader term maps to a narrower term))
  • ICD-10:Q90.9 (BTNT (broader term maps to a narrower term))
  • ICD-10:Q90.2 (Specific code (The term has its own code in the ICD10))
  • ICD-10:Q90.2 (BTNT (broader term maps to a narrower term))
hasDbXref

MeSH:D004314

notation

ORPHA:870

Term relations

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