Preferred Name | visceral heterotaxy | |
Synonyms |
heterotaxia syndrome visceral heterotaxy heterotaxy, visceral situs ambiguous lateralization defect partial situs inversus situs ambiguus incomplete situs inversus heterotaxia heterotaxy syndrome |
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Definitions |
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. |
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ID |
http://purl.obolibrary.org/obo/MONDO_0018677 |
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database_cross_reference |
Orphanet:450 MedDRA:10067265 SCTID:14821001 NCIT:C117273 DOID:0050545 Orphanet:157769 MedDRA:10059119 icd11.foundation:780273165 OMIMPS:306955 MEDGEN:465273 UMLS:C3178805 GARD:10875 |
|
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. |
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has_exact_synonym |
heterotaxia syndrome visceral heterotaxy heterotaxy, visceral situs ambiguous lateralization defect partial situs inversus situs ambiguus incomplete situs inversus heterotaxia heterotaxy syndrome |
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IAO_0000233 | ||
id |
MONDO:0018677 |
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in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_morphological_anomaly http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
label |
visceral heterotaxy |
|
notation |
MONDO:0018677 |
|
preferred label |
visceral heterotaxy |
|
prefLabel |
visceral heterotaxy |
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skos_closeMatch | ||
skos_exactMatch |
http://purl.obolibrary.org/obo/Orphanet_157769 http://identifiers.org/snomedct/14821001 http://purl.obolibrary.org/obo/DOID_0050545 http://purl.obolibrary.org/obo/NCIT_C117273 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/780273165 http://purl.obolibrary.org/obo/Orphanet_450 http://linkedlifedata.com/resource/umls/id/C3178805 |
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subClassOf |