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Results: 1 to 20 of 80

1.

Omphalocele exstrophy imperforate anus

A rare combination of congenital abnormalities that includes omphalocele, cloacal exstrophy, imperforate anus, and spine abnormalities. [from NCI]

MedGen UID:
338020
Concept ID:
C1850321
Disease or Syndrome
2.

Congenital omphalocele

An omphalocele is an abdominal wall defect limited to an open umbilical ring, and is characterized by the herniation of membrane-covered internal organs into the open base of the umbilical cord. Omphalocele is distinguished from gastroschisis (230750), in which the abdominal wall defect is located laterally to a normally closed umbilical ring with herniation of organs that are uncovered by membranes (summary by Bugge, 2010). On the basis of clinical manifestations, epidemiologic characteristics, and the presence of additional malformations, Yang et al. (1992) concluded that omphalocele and gastroschisis are casually and pathogenetically distinct abdominal wall defects. Omphalocele can be a feature of genetic disorders, such as Beckwith-Wiedemann syndrome (130650) and the Shprintzen-Goldberg syndrome (182210). [from OMIM]

MedGen UID:
162756
Concept ID:
C0795690
Disease or Syndrome
3.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
4.

Monosomy

The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1. [from MeSH]

MedGen UID:
6432
Concept ID:
C0026499
Congenital Abnormality
5.

Detected

MedGen UID:
617726
Concept ID:
C0442726
Finding
6.

Malposition

MedGen UID:
568819
Concept ID:
C0333042
Finding
7.

Cloacal exstrophy

Cloacal exstrophy is a severe anterior abdominal wall defect in which the two hemibladders are visible and are separated by a midline intestinal plate, an omphalocele, and an imperforate anus. [from HPO]

MedGen UID:
506366
Concept ID:
CN009306
Finding
8.

Anal atresia

Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. [from HPO]

MedGen UID:
505058
Concept ID:
CN001831
Finding
9.

Omphalocele

A midline anterior `incomplete closure` (PATO:0000609) of the `abdominal wall` (FMA:259054) in which there is herniation of the abdominal viscera into the base of the abdominal cord. [from HPO]

MedGen UID:
504850
Concept ID:
CN001405
Finding
10.

Global developmental delay

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. [from HPO]

MedGen UID:
504774
Concept ID:
CN001157
Finding
11.

Rib fusion

Complete or partial merging of adjacent ribs. [from HPO]

MedGen UID:
504648
Concept ID:
CN000846
Finding
12.

Exstrophy

MedGen UID:
488777
Concept ID:
C0015338
Congenital Abnormality
13.

Omphalocele

MedGen UID:
472177
Concept ID:
CN130099
Disease or Syndrome
14.

Exstrophy

Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall. [from HPO]

MedGen UID:
451877
Concept ID:
CN117441
Finding
15.

Error occurred: cannot get document summary

ID:
449950

16.

Error occurred: cannot get document summary

ID:
449826

17.

Intestinal malrotation

MedGen UID:
440888
Concept ID:
C2749839
Finding
18.

Abnormality of the cardiac septa

An anomaly of the intra-atrial or intraventricular septum. [from HPO]

MedGen UID:
428275
Concept ID:
CN001520
Finding
19.

Wide anterior fontanel

MedGen UID:
400926
Concept ID:
C1866134
Finding
20.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome

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