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Kabuki syndrome

^ http://www.orpha.net/ORDO/Orphanet_2322


Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.

Synonyms: Niikawa-Kuroki syndrome, Kabuki make-up syndrome

Term info

database cross reference
  • UMLS:C0796004 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:Q87.0 (Attributed)
  • OMIM:147920 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:Q87.0 (NTBT (narrower term maps to a broader term))
  • MedDRA:10063935 (E (exact mapping (the terms and the concepts are equivalent)))
  • MeSH:C537705 (E (exact mapping (the terms and the concepts are equivalent)))
  • OMIM:300867 (BTNT (broader term maps to a narrower term))
hasDbXref

ICD-10:Q87.0, MedDRA:10063935, OMIM:300867, UMLS:C0796004, MeSH:C537705, OMIM:147920

notation

ORPHA:2322

Term relations