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Graham-Boyle-Troxell syndrome

^ http://purl.obolibrary.org/obo/MONDO_0023275

Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987. [ Orphanet:2111 ]

Term info

database cross reference
  • SCTID:707530009 (MONDO:equivalentTo)
  • Orphanet:2111 (MONDO:equivalentTo)
  • MESH:C537292 (MONDO:equivalentTo)
  • ICD9:759.6 (MONDO:relatedTo)
  • UMLS:C2931468 (Orphanet:2111)
  • GARD:0002557 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

definition

Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987.

exactMatch

http://identifiers.org/mesh/C537292, http://linkedlifedata.com/resource/umls/id/C2931468, http://purl.obolibrary.org/obo/Orphanet_2111, http://identifiers.org/snomedct/707530009

has exact synonym

Graham-Boyle-Troxell syndrome, graham Boyle Troxell syndrome, cystic hamartoma of lung and kidney

has related synonym

cystic hamartomata of lung and kidney

id

MONDO:0023275

seeAlso

https://rarediseases.info.nih.gov/diseases/2557/graham-boyle-troxell-syndrome