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Smith-Magenis syndrome

^ http://www.orpha.net/ORDO/Orphanet_819


Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.

Synonyms: 17p11.2 microdeletion syndrome

Term info

database cross reference
  • UMLS:C0795864 (E (exact mapping (the terms and the concepts are equivalent)))
  • OMIM:182290 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:Q93.5 (Attributed)
  • ICD-10:Q93.5 (NTBT (narrower term maps to a broader term))
  • MeSH:D058496 (E (exact mapping (the terms and the concepts are equivalent)))
hasDbXref

ICD-10:Q93.5, MeSH:D058496, UMLS:C0795864, OMIM:182290

notation

ORPHA:819