loading...| Preferred Name |
Idiopathic/heritable pulmonary arterial hypertension |
|
| Synonyms |
Idiopathic and/or familial pulmonary arterial hypertension |
|
| Definitions |
A form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. The majority cases have an identifiable genetic cause, but a significant proportion are idiopathic. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_422 |
|
| alternative_term |
Idiopathic and/or familial pulmonary arterial hypertension |
|
| definition |
A form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. The majority cases have an identifiable genetic cause, but a significant proportion are idiopathic. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=422 |
|
| has_age_of_onset |
All ages |
|
| has_inheritance |
Not applicable Autosomal recessive Autosomal dominant |
|
| hasDbXref |
ICD-11:BB01.0 OMIM:178600 UMLS:C5679820 ICD-10:I27.0 OMIM:615344 OMIM:615342 OMIM:615343 OMIM:265400 |
|
| label |
Idiopathic/heritable pulmonary arterial hypertension |
|
| notation |
ORPHA:422 |
|
| part_of | ||
| prefixIRI |
ORDO:Orphanet_422 |
|
| prefLabel |
Idiopathic/heritable pulmonary arterial hypertension |
|
| present_in |
China AND has_point_prevalence_average_value : 6.25 AND has_point_prevalence_range : 1-9 / 100 000 Czech Republic AND has_annual_incidence_average_value : 0.62 AND has_annual_incidence_range : 1-9 / 1 000 000 United States AND has_annual_incidence_average_value : 0.11 AND has_annual_incidence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 Czech Republic AND has_point_prevalence_average_value : 1.4 AND has_point_prevalence_range : 1-9 / 100 000 France AND has_annual_incidence_average_value : 0.1 AND has_annual_incidence_range : 1-9 / 1 000 000 France AND has_point_prevalence_average_value : 0.65 AND has_point_prevalence_range : 1-9 / 1 000 000 |
|
| treeView | ||
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_422 | EFO | SAME_URI |