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Down syndrome

^ http://purl.obolibrary.org/obo/DOID_14250


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. [ url:http://en.wikipedia.org/wiki/Down_syndrome url:http://www.nichd.nih.gov/health/topics/down/Pages/default.aspx url:http://ghr.nlm.nih.gov/condition/down-syndrome url:http://www.omim.org/entry/190685?search=down%20syndrome&highlight=down%20syndromic%20syndrome ]

Synonyms: Downs syndrome, Down's syndrome, Complete trisomy 21 syndrome (disorder), trisomy 21 syndrome, G Trisomy, Down's syndrome - trisomy 21

Term info

database cross reference
  • ICD9CM:758.0
  • OMIM:190685
  • ICD10CM:Q90
  • MESH:D004314
  • SNOMEDCT_US_2016_03_01:254263008
  • ICD10CM:Q90.9
  • NCI:C2993
  • SNOMEDCT_US_2016_03_01:157019002
  • SNOMEDCT_US_2016_03_01:205614001
  • SNOMEDCT_US_2016_03_01:205618003
  • UMLS_CUI:C0013080
  • SNOMEDCT_US_2016_03_01:41040004
  • NCI:C101222
comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:14250

Term relations

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