loading...| Preferred Name |
Aortic Coarctation |
|
| Synonyms |
coarctation of aorta aortic coarctation aorta coarctation coarctation of the aorta |
|
| Definitions |
A birth defect characterized by the narrowing of the AORTA that can be of varying degree and at any point from the transverse arch to the iliac bifurcation. Aortic coarctation causes arterial HYPERTENSION before the point of narrowing and arterial HYPOTENSION beyond the narrowed portion. Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps. |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_1001267 |
|
| closeMatch | ||
| database_cross_reference |
MedDRA:10002894 SNOMEDCT:7305005 MeSH:D001017 ORDO:Orphanet_1457 NCIT:C84567 icd11.foundation:1524185114 OMIM:120000 Orphanet:1457 NCIt:C84567 SCTID:7305005 MedDRA:10009807 ICD10:Q25.1 ICD10CM:Q25.1 NANDO:2200284 NANDO:2200283 UMLS:C0003492 ICD9:747.10 MESH:D001017 GARD:5828 ICD9:747.1 MONDO:0007345 |
|
| definition |
A birth defect characterized by the narrowing of the AORTA that can be of varying degree and at any point from the transverse arch to the iliac bifurcation. Aortic coarctation causes arterial HYPERTENSION before the point of narrowing and arterial HYPOTENSION beyond the narrowed portion. Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps. |
|
| exactMatch |
http://purl.bioontology.org/ontology/ICD10CM/Q25.1 http://purl.obolibrary.org/obo/Orphanet_1457 http://purl.obolibrary.org/obo/NCIT_C84567 http://identifiers.org/snomedct/7305005 |
|
| gwas_trait |
true |
|
| has_exact_synonym |
coarctation of aorta aortic coarctation aorta coarctation |
|
| has_related_synonym |
coarctation of the aorta coarctation of aorta |
|
| IAO_0000233 | ||
| id |
EFO:1001267 |
|
| 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#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease |
|
| label |
Aortic Coarctation |
|
| notation |
EFO:1001267 |
|
| prefLabel |
Aortic Coarctation |
|
| term editor |
Sirarat Sarntivijai |
|
| subClassOf |
http://www.ebi.ac.uk/efo/EFO_0000508 http://www.ebi.ac.uk/efo/EFO_0005775 |