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Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
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| Id | http://www.orpha.net/ORDO/Orphanet_77240
http://www.orpha.net/ORDO/Orphanet_77240
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|---|---|
| Preferred Name | Primary lymphedema |
| Definitions |
Primary lymphedema is a lymphatic system malformation characterized by swelling of an extremity that can be associated with other lymphatic effusions, due to an underlying developmental anomaly of the lymphatic system (abnormal lymphangiogenesis). It can be hereditary or not and be congenital or late onset.
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition_citation | Orphanet |
|---|---|
| definition | Primary lymphedema is a lymphatic system malformation characterized by swelling of an extremity that can be associated with other lymphatic effusions, due to an underlying developmental anomaly of the lymphatic system (abnormal lymphangiogenesis). It can be hereditary or not and be congenital or late onset. |
| label |
Primary lymphedema
|
| prefLabel |
Primary lymphedema
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| hasDbXref |
ICD-11:BD93.0
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| notation |
ORPHA:77240
Category
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| present_in |
Europe AND has_point_prevalence_average_value : 16.7 AND has_point_prevalence_range : 1-5 / 10 000
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| prefixIRI |
ORDO:Orphanet_77240
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| expertlink | |
| subClassOf | |
| type | |
| has_inheritance |
Autosomal recessive
Autosomal dominant
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| has_age_of_onset |
All ages
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