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Pitt-Hopkins syndrome

^ http://www.orpha.net/ORDO/Orphanet_2896


Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.

Term info

database cross reference
  • MeSH:C537403 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:Q87.0 (NTBT (narrower term maps to a broader term))
  • ICD-10:Q87.0 (Attributed)
  • OMIM:610954 (E (exact mapping (the terms and the concepts are equivalent)))
  • UMLS:C1970431 (E (exact mapping (the terms and the concepts are equivalent)))
hasDbXref

ICD-10:Q87.0, MeSH:C537403, OMIM:610954, UMLS:C1970431

notation

ORPHA:2896