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Items: 4

1.

Congenital diaphragmatic hernia

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

MedGen UID:
500895
Concept ID:
CN000730
Finding
2.

Hernia

MedGen UID:
452018
Concept ID:
CN117680
Finding
3.

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; Disease or Syndrome
4.

Neonatal hemochromatosis

Neonatal hemochromatosis (NH) is characterized by hepatic failure in the newborn period and heavy iron staining in the liver. In addition, there is marked siderosis of extrahepatic tissues, including the heart and pancreas (Driscoll et al., 1988). Whitington (2007) postulated that some cases of neonatal hemochromatosis result from maternal alloimmunity directed at the fetal liver, and therefore do not represent an inherited mendelian disorder. Other causes may result from metabolic disease or perinatal infection. In particular, he commented that the disorder is not related to the family of inherited liver diseases that fall under the classification of hereditary hemochromatosis (see, e.g., 235200). Whitington (2007) proposed the term 'congenital alloimmune hepatitis.' In the past, the disorder has loosely been labeled 'neonatal hepatitis' and 'giant cell hepatitis,' which are pathologic findings in the liver representing a common response to a variety of insults, including cholestatic disorders and infection, among others (Fawaz et al., 1975; Knisely et al., 1987; Kelly et al., 2001). [from OMIM]

MedGen UID:
82768
Concept ID:
C0268059
Disease or Syndrome
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