Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Situs ambiguus

Synonyms

Incomplete situs inversus

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.

ID

http://www.orpha.net/ORDO/Orphanet_157769

alternative_term

Incomplete situs inversus

Situs ambiguous

Partial situs inversus

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.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157769

hasDbXref

ICD-10:Q89.3

MedDRA:10059119

UMLS:C0266642

label

Situs ambiguus

notation

ORPHA:157769

part_of

http://www.orpha.net/ORDO/Orphanet_271853

http://www.orpha.net/ORDO/Orphanet_108971

http://www.orpha.net/ORDO/Orphanet_450

prefixIRI

ORDO:Orphanet_157769

prefLabel

Situs ambiguus

treeView

http://www.orpha.net/ORDO/Orphanet_271853

http://www.orpha.net/ORDO/Orphanet_108971

http://www.orpha.net/ORDO/Orphanet_450

subClassOf

http://www.orpha.net/ORDO/Orphanet_557493

http://www.orpha.net/ORDO/Orphanet_377791

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