Orphanet Rare Disease Ontology

Last uploaded: December 4, 2024
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Id http://www.orpha.net/ORDO/Orphanet_157769
http://www.orpha.net/ORDO/Orphanet_157769
Preferred Name

Situs ambiguus
Definitions
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.
Synonyms
Incomplete situs inversus
Situs ambiguous
Partial situs inversus
Type http://www.w3.org/2002/07/owl#Class

All Properties

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Orphanet
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.
label
Situs ambiguus
prefLabel
Situs ambiguus
hasDbXref
ICD-10:Q89.3
MedDRA:10059119
UMLS:C0266642
notation
ORPHA:157769
alternative_term
Incomplete situs inversus
Situs ambiguous
Partial situs inversus
part_of
prefixIRI
ORDO:Orphanet_157769
expertlink
subClassOf
type
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