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congenital chylothorax

^ http://purl.obolibrary.org/obo/MONDO_0011331

Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations. [ Orphanet:264688 ]

Term info

database cross reference
  • OMIM:603523 (Orphanet:264688/e)
  • ICD9:511.89 (MONDO:relatedTo)
  • SCTID:233646003 (MONDO:equivalentTo)
  • Orphanet:264688 (OMIM:603523)
  • DOID:0060646 (MONDO:equivalentTo)
  • UMLS:C0340014 (Orphanet:264688/e)
  • MESH:C535461 (MONDO:equivalentTo)
  • GARD:0010156 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4069

definition

Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations.

exactMatch

http://identifiers.org/snomedct/233646003, http://purl.obolibrary.org/obo/Orphanet_264688, https://omim.org/entry/603523, http://purl.obolibrary.org/obo/DOID_0060646, http://identifiers.org/mesh/C535461, http://linkedlifedata.com/resource/umls/id/C0340014

has related synonym

chylothorax, congenital, hydrothorax, congenital

id

MONDO:0011331

seeAlso

https://rarediseases.info.nih.gov/diseases/10156/chylothorax-congenital