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Monosomy 22q13

^ http://www.orpha.net/ORDO/Orphanet_48652


Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.

Synonyms: Phelan-McDermid syndrome, 22q13 deletion

Term info

database cross reference
  • ICD-10:Q93.5 (Attributed)
  • OMIM:606232 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:Q93.5 (NTBT (narrower term maps to a broader term))
  • UMLS:C1853490 (E (exact mapping (the terms and the concepts are equivalent)))
hasDbXref

ICD-10:Q93.5, UMLS:C1853490, OMIM:606232

notation

ORPHA:48652