loading...| Preferred Name | Heterotaxia | |
| Synonyms |
Heterotaxy syndrome Visceral heterotaxy Lateralization defect |
|
| Definitions |
Heterotaxia (coming from the Greek 'heteros' meaning different and 'taxis' meaning arrangement) is the right/left transposition of thoracic and/or abdominal organs. It encompasses a wide variety of disorders since there are multiple possibilities of right/left reversals, which may be complete (<i>situs inversus totalis</i> or <i>situs inversus</i> <i>i.e.</i> all the organs normally found on the right are on the left and vice versa) or partial (incomplete <i>situs inversus</i> <i>i.e.</i> a limited number of organs are inversed - or <i>situs inversus ambiguous</i> <i>i.e.</i> a normally lateral organ is centrally located). |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_450 |
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| alternative_term |
Heterotaxy syndrome Visceral heterotaxy Lateralization defect |
|
| definition |
Heterotaxia (coming from the Greek 'heteros' meaning different and 'taxis' meaning arrangement) is the right/left transposition of thoracic and/or abdominal organs. It encompasses a wide variety of disorders since there are multiple possibilities of right/left reversals, which may be complete (situs inversus totalis or situs inversus i.e. all the organs normally found on the right are on the left and vice versa) or partial (incomplete situs inversus i.e. a limited number of organs are inversed - or situs inversus ambiguous i.e. a normally lateral organ is centrally located). |
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| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=450 |
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| has_age_of_onset |
Infancy Neonatal |
|
| has_inheritance |
Autosomal recessive X-linked recessive Autosomal dominant |
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| hasDbXref |
MedDRA:10067265 ICD-10:Q89.3 OMIM:617205 MeSH:D059446 OMIM:613751 OMIM:306955 OMIM:270100 OMIM:601086 OMIM:605376 OMIM:618948 OMIM:614779 OMIM:616749 OMIM:606325 UMLS:C3178805 OMIM:619702 |
|
| label |
Heterotaxia |
|
| notation |
Category ORPHA:450 |
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| prefixIRI |
ORDO:Orphanet_450 |
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| prefLabel |
Heterotaxia |
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| present_in |
United States AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 |
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| subClassOf |