Heterotaxy Syndrome

Preferred Label : Heterotaxy Syndrome;

NCIt synonyms : Heterotaxia Syndrome;

NCIt definition : A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton.;

Details

Origin ID

C117273;

UMLS CUI

C3178805;

Automatic exact mappings (from CISMeF team)
- Situs inversus [PASCAL descriptor]
Currated CISMeF NLP mapping
- Heterotaxia [ORDO Disease]
- Heterotaxia [MedDRA Preferred Term]
- heterotaxy syndrome [MeSH Descriptor]
- heterotaxy syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Heterotaxia [ORDO Disease]
- heterotaxy syndrome [MeSH Descriptor]
- heterotaxy syndrome [MeSH concept]
Validated automatic mappings to BTNT
- Visceral heterotaxy [Vue CIM-11]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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