Down syndrome

Term ID

DOID:14250

Synonyms

• Complete trisomy 21 syndrome
• Down's syndrome
• Down's syndrome - trisomy 21
• Downs syndrome
• G Trisomy
• trisomy 21 syndrome

Definition

A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability. (5)

References

• GARD:10247
• ICD10CM:Q90
• ICD9CM:758.0
• MESH:D004314
• MIM:190685
• NCI:C2993
• ORDO:870
• SNOMEDCT_US_2023_03_01:41040004
• UMLS_CUI:C0013080

Ontology

Human Disease   ( DOID:14250 )