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Items: 1 to 20 of 22

1.

Gastroschisis

Gastroschisis is a congenital defect of the abdominal wall that occurs laterally to, and often to the right of, a normally closed umbilical ring. Visceral organs that herniate through the defect are not covered by a membrane. Gastroschisis is distinct from omphalocele (164750), which is characterized by herniation of abdominal contents through the base of the umbilical cord; in omphalocele, the visceral organs are covered by membranes (summary by Mastroiacovo et al., 2007). Both omphalocele and gastroschisis, when they occur without other malformations, are probably multifactorial (Baird and MacDonald, 1981). [from GTR]

MedGen UID:
82721
Concept ID:
C0265706
Disease or Syndrome
2.

Gastroschisis

A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs to extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus. [from HPO]

MedGen UID:
504852
Concept ID:
CN001408
Finding
3.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
4.

Proximal spinal muscular atrophy

Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. [from ORDO]

MedGen UID:
832697
Concept ID:
CN205570
Disease or Syndrome
5.

Absence

MedGen UID:
739164
Concept ID:
C1689985
Anatomical Abnormality
6.

Indian childhood cirrhosis

MedGen UID:
75650
Concept ID:
C0268074
Disease or Syndrome
7.

Abdominal wall defect

An incomplete closure of the abdominal wall. [from HPO]

MedGen UID:
68671
Concept ID:
C0238577
Congenital Abnormality; Finding
8.

Spinal muscular atrophy

Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adolescence or young adulthood. The weakness is symmetric, proximal > distal, and progressive. Before the genetic basis of SMA was understood, it was classified into clinical subtypes; however, it is now apparent that the phenotype of SMN1-associated SMA spans a continuum without clear delineation of subtypes. Poor weight gain with growth failure, restrictive lung disease, scoliosis, joint contractures, and sleep difficulties are common complications. [from GTR]

MedGen UID:
7755
Concept ID:
C0026847
Disease or Syndrome
9.

Pathological Conditions, Anatomical

An abnormal structural condition of the human body, usually macroscopic, that is common to a variety of different diseases. [from MeSH]

MedGen UID:
155708
Concept ID:
C0752135
Pathologic Function
10.

Vaginal enterocele

An intestinal HERNIA. [from MeSH]

MedGen UID:
64443
Concept ID:
C0205792
Anatomical Abnormality
11.

Intra-abdominal hernia

A protrusion of abdominal structures through the retaining ABDOMINAL WALL. It involves two parts: an opening in the abdominal wall, and a hernia sac consisting of PERITONEUM and abdominal contents. Abdominal hernias include groin hernia (HERNIA, FEMORAL; HERNIA, INGUINAL) and VENTRAL HERNIA. [from MeSH]

MedGen UID:
59810
Concept ID:
C0178282
Anatomical Abnormality
12.

Congenital anomaly of musculoskeletal system

An abnormality of the musculoskeletal system that is present at birth or detected in the neonatal period. [from NCI]

MedGen UID:
57466
Concept ID:
C0151491
Congenital Abnormality
13.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. [from MeSH]

MedGen UID:
14319
Concept ID:
C0027612
Congenital Abnormality; Disease or Syndrome
14.

Pregnancy

The state or condition of having a developing embryo or fetus in the body (uterus), after union of an ovum and spermatozoon, during the period from conception to birth. [from NCI]

MedGen UID:
10895
Concept ID:
C0032961
Organism Function
15.

Hernia

Protrusion of tissue, structure, or part of an organ through the bone, muscular tissue, or the membrane by which it is normally contained. Hernia may involve tissues such as the ABDOMINAL WALL or the respiratory DIAPHRAGM. Hernias may be internal, external, congenital, or acquired. [from MeSH]

MedGen UID:
6816
Concept ID:
C0019270
Anatomical Abnormality; Finding
16.

Disorder of musculoskeletal system

A category of diseases that involve muscles and bones. [from NCI]

MedGen UID:
6471
Concept ID:
C0026857
Disease or Syndrome
17.

Developmental abnormality

Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period. [from NCI]

MedGen UID:
1254
Concept ID:
C0000768
Congenital Abnormality
18.

Pregnancy, Interstitial

A type of ectopic pregnancy in which the extrauterine EMBRYO IMPLANTATION occurs in the portion of the FALLOPIAN TUBE that traverses the muscular wall of the uterus. [from MeSH]

MedGen UID:
810822
Concept ID:
C1401136
Disease or Syndrome
19.

Congenital anomaly of intestinal tract

MedGen UID:
712961
Concept ID:
C1290601
Congenital Abnormality
20.

Congenital anomaly of digestive tract

MedGen UID:
507640
Concept ID:
C0012241
Congenital Abnormality
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