Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation. [ http://www.ncbi.nlm.nih.gov/pubmed/22831870 ]
Synonyms: hereditary lymphedema lymphedema, hereditary
Term information
- UMLS:C0398368 (MONDO:equivalentTo)
- OMIMPS:153100 (https://orcid.org/0000-0002-6601-2165)
- SCTID:254199006 (MONDO:equivalentTo)
- MEDGEN:140763 (MONDO:equivalentTo)
- GARD:13057 (MONDO:GARD)
- DOID:0050580 (MONDO:equivalentTo)
- ICD10CM:Q82.0 (Orphanet:79452/ntbt)
- ICD9:757.0 (DOID:0050580)
gard_rare, otar, rare
https://github.com/monarch-initiative/mondo/issues/6877
https://github.com/monarch-initiative/mondo/issues/6740
http://linkedlifedata.com/resource/umls/id/C0398368
http://identifiers.org/snomedct/254199006
https://omim.org/phenotypicSeries/PS153100
http://purl.bioontology.org/ontology/ICD10CM/Q82.0
http://identifiers.org/medgen/140763
http://purl.obolibrary.org/obo/DOID_0050580