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Items: 2

1.

Left renal vein entrapment syndrome

Compression of the left renal vein between the superior mesenteric artery and the abdominal aorta causing an increase in the pressure gradient between the left renal vein and the inferior vena cava. The thin septae between the veins and the collecting system in the renal fornices rupture, with resultant left sided hematuria. Most symptomatic cases present in the third or fourth decade of life, with women being more commonly affected than men. Three types of renal nutcracker syndrome have been defined: anterior nutcracker syndrome, posterior nutcracker syndrome and combined nutcracker syndrome. [from SNOMEDCT_US]

MedGen UID:
465238
Concept ID:
C3178770
Disease or Syndrome
2.

Raine syndrome

Raine syndrome is a neonatal osteosclerotic bone dysplasia of early and aggressive onset that usually results in death within the first few weeks of life, although there have been some reports of survival into childhood. Radiographic studies show a generalized increase in the density of all bones and a marked increase in the ossification of the skull. The increased ossification of the basal structures of the skull and facial bones underlies the characteristic facial features, which include narrow prominent forehead, proptosis, depressed nasal bridge, and midface hypoplasia. Periosteal bone formation is also characteristic of this disorder and differentiates it from osteopetrosis and other known lethal and nonlethal osteosclerotic bone dysplasias. The periosteal bone formation typically extends along the diaphysis of long bones adjacent to areas of cellular soft tissue (summary by Simpson et al., 2009). [from OMIM]

MedGen UID:
342416
Concept ID:
C1850106
Disease or Syndrome

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