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Situs ambiguus

Disease definition

A rare, genetic, developmental defect during embryogenesis characterized by a partial mirror-image transposition of intra-thoracic and/or intra-abdominal organs across the left-right axis of the body. Intra-organ variations and other malformations, such as ciliary motricity anomalies (e.g. Kartagener syndrome), biliary atresia and cardiac defects, are frequently associated. Left (polysplenia syndrome) or right (asplenia syndrome) isomerism are usually observed.

ORPHA:157769

Classification level: Disorder
  • Synonym(s):
    • Incomplete situs inversus
    • Partial situs inversus
    • Situs ambiguous
  • Prevalence: -
  • Inheritance: -
  • Age of onset: Antenatal
  • ICD-10: Q89.3
  • OMIM: -
  • UMLS: C0266642  C1167664
  • MeSH: -
  • GARD: -
  • MedDRA: 10059119

Additional information

Further information on this disease

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