Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Primary lymphedema

Synonyms
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 lymphoangiogenesis). It can be hereditary or not and be congenital or late onset.

ID

http://www.orpha.net/ORDO/Orphanet_77240

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 lymphoangiogenesis). It can be hereditary or not and be congenital or late onset.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77240

has_age_of_onset

All ages

has_inheritance

Autosomal recessive

Autosomal dominant

hasDbXref

ICD-11:BD93.0

label

Primary lymphedema

notation

ORPHA:77240

Category

prefixIRI

ORDO:Orphanet_77240

prefLabel

Primary lymphedema

present_in

Europe AND has_point_prevalence_average_value : 16.7 AND has_point_prevalence_range : 1-5 / 10 000

subClassOf

http://www.orpha.net/ORDO/Orphanet_68346

http://www.orpha.net/ORDO/Orphanet_89826

http://www.orpha.net/ORDO/Orphanet_211255

http://www.orpha.net/ORDO/Orphanet_557492

http://www.orpha.net/ORDO/Orphanet_211240

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