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Items: 1 to 20 of 36

1.

Congenital diaphragmatic hernia

The presence of a hernia of the diaphragm present at birth. [from HPO]

MedGen UID:
68625
Concept ID:
C0235833
Disease or Syndrome
2.

Hernia

A hernia happens when part of an internal organ or tissue bulges through a weak area of muscle. Most hernias are in the abdomen. There are several types of hernias, including. - Inguinal, in the groin. This is the the most common type. - Umbilical, around the belly button. - Incisional, through a scar. - Hiatal, a small opening in the diaphragm that allows the upper part of the stomach to move up into the chest. - Congenital diaphragmatic, a birth defect that needs surgery. Hernias are common. They can affect men, women, and children. A combination of muscle weakness and straining, such as with heavy lifting, might contribute. Some people are born with weak abdominal muscles and may be more likely to get a hernia. Treatment is usually surgery to repair the opening in the muscle wall. Untreated hernias can cause pain and health problems.  [from MedlinePlus]

MedGen UID:
6816
Concept ID:
C0019270
Anatomical Abnormality; Finding
3.

Diaphragmatic hernia

Protrusion of abdominal structures into the THORAX as a result of congenital or traumatic defects in the respiratory DIAPHRAGM. [from MeSH]

MedGen UID:
5530
Concept ID:
C0019284
Anatomical Abnormality
4.

Abnormal heart morphology

Any structural anomaly of the heart. [from HPO]

MedGen UID:
504877
Concept ID:
CN001482
Finding
5.

Congenital heart defects

MedGen UID:
490004
Concept ID:
CN169364
Disease or Syndrome
6.

Haploinsufficiency

A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient. [from MeSH]

MedGen UID:
424691
Concept ID:
C2936267
Cell or Molecular Dysfunction
7.

Congenital defects

A birth defect is a problem that happens while a baby is developing in the mother's body. Most birth defects happen during the first 3 months of pregnancy. One out of every 33 babies in the United States is born with a birth defect. A birth defect may affect how the body looks, works or both. Some birth defects like cleft lip or neural tube defects are structural problems that can be easy to see. To find others, like heart defects, doctors use special tests. Birth defects can vary from mild to severe. Some result from exposures to medicines or chemicals. For example, alcohol abuse can cause fetal alcohol syndrome. Infections during pregnancy can also result in birth defects. For most birth defects, the cause is unknown. . Some birth defects can be prevented. Taking folic acid can help prevent some birth defects. Talk to your doctor about any medicines you take. Some medicines can cause serious birth defects. Babies with birth defects may need surgery or other medical treatments. Today, doctors can diagnose many birth defects in the womb. This enables them to treat or even correct some problems before the baby is born. Centers for Disease Control and Prevention.  [from MedlinePlus]

MedGen UID:
66328
Concept ID:
C0220810
Congenital Abnormality
8.

Episodic

Applied to a sign, symptom, or other manifestation that occurs at least twice and potentially multiple times but separated by an interval in whichthe sign, symptom, or manifestation is not present. [from HPO]

MedGen UID:
910017
Concept ID:
CN240220
Organism Attribute
9.

Congenital defects

MedGen UID:
807751
Concept ID:
CN220536
Finding
10.

Congenital diaphragmatic hernia

Congenital diaphragmatic hernia (CDH) is characterized by: (1) incomplete formation/muscularization of the diaphragm resulting in absence or deficiency of the diaphragm, or (2) eventration resulting in elevation of a portion of the diaphragm that is thinned as a result of incomplete muscularization. Diaphragmatic hernias include posterolateral (Bochdalek) hernias, Morgagni and other anterior hernias, and (rarely) central hernias. About 50%-60% of affected individuals have isolated CDH; the remainder have complex CDH – that is, CDH occurring with additional malformations or as part of a single-gene disorder or chromosome abnormality. Infants with CDH often present in the neonatal period with severe respiratory distress; pulmonary hypoplasia is common. Presenting symptoms after infancy can be acute onset of respiratory or gastrointestinal distress or abdominal pain from chronic intestinal obstruction or pleural effusion from entrapment of the bowel in the chest. [from GeneReviews]

MedGen UID:
327155
Concept ID:
C1840644
Congenital Abnormality
11.

Severe

Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
104640
Concept ID:
C0205082
Qualitative Concept
12.

Dysplasia of acetabulum

The presence of developmental dysplasia of the hip. [from HPO]

MedGen UID:
9258
Concept ID:
C0019555
Congenital Abnormality
13.

Allelic Imbalance

A situation where one member (allele) of a gene pair is lost (LOSS OF HETEROZYGOSITY) or amplified. [from MeSH]

MedGen UID:
168420
Concept ID:
C0887935
Cell or Molecular Dysfunction
14.

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
15.

Abnormality of the cardiovascular system

Any abnormality of the cardiovascular system. [from HPO]

MedGen UID:
116727
Concept ID:
C0243050
Disease or Syndrome
16.

Sequence Deletion

Deletion of sequences of nucleic acids from the genetic material of an individual. [from MeSH]

MedGen UID:
102460
Concept ID:
C0162773
Cell or Molecular Dysfunction
17.

Mutagenesis Process

Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS. [from MeSH]

MedGen UID:
86969
Concept ID:
C0079866
Molecular Function
18.

Vaginal enterocele

An intestinal HERNIA. [from MeSH]

MedGen UID:
64443
Concept ID:
C0205792
Anatomical Abnormality
19.

Fatal Outcome

Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept. [from MeSH]

MedGen UID:
61558
Concept ID:
C0206277
Pathologic Function
20.

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
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