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VACTERL with hydrocephalus

^ http://purl.obolibrary.org/obo/MONDO_0010172

VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association. [ Orphanet:3412 ]

Term info

database cross reference
  • Orphanet:3412 (OMIM:276950)
  • OMIM:276950 (Orphanet:3412/e)
  • UMLS:C1848599 (OMIM:276950)
  • GARD:0000272 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

definition

VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_3412, http://linkedlifedata.com/resource/umls/id/C1848599, https://omim.org/entry/276950

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015159, http://purl.obolibrary.org/obo/MONDO_0015246, http://purl.obolibrary.org/obo/MONDO_0020119

has exact synonym

Sujansky-Leonard syndrome

has related synonym

VACTERL association with hydrocephalus, Vater association with hydrocephalus, vertebral (V), anal (A), cardiac (C), tracheoesophageal (te), renal (R) and limb (L) anomalies and hydrocephaly, VACTERL-H, VACTERL hydrocephaly, VACTERL association with hydrocephaly, Vater association with macrocephaly and ventriculomegaly

id

MONDO:0010172