From HPO
Hypospadias- MedGen UID:
- 163083
- •Concept ID:
- C0848558
- •
- Congenital Abnormality
Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
Fetal growth restriction- MedGen UID:
- 4693
- •Concept ID:
- C0015934
- •
- Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Annular pancreas- MedGen UID:
- 56211
- •Concept ID:
- C0149955
- •
- Congenital Abnormality
A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum.
Intestinal malrotation- MedGen UID:
- 113153
- •Concept ID:
- C0221210
- •
- Congenital Abnormality
An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.
Duodenal atresia- MedGen UID:
- 75602
- •Concept ID:
- C0266174
- •
- Congenital Abnormality
A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum.
Jejunal atresia- MedGen UID:
- 75603
- •Concept ID:
- C0266175
- •
- Congenital Abnormality
Jejunal atresia is the most common cause of bowel obstruction in the newborn. In this condition, because of agenesis of the mesentery, the distal small bowel comes straight off the caecum and twists around the marginal artery, suggesting a maypole, a Christmas tree, or an apple peel at operation. Obliteration of the superior mesenteric artery may underlie this malformation.
Pancreatic hypoplasia- MedGen UID:
- 539808
- •Concept ID:
- C0266267
- •
- Congenital Abnormality
Hypoplasia of the pancreas.
Hypoplasia of the gallbladder- MedGen UID:
- 488880
- •Concept ID:
- C0345282
- •
- Congenital Abnormality
The presence of a hypoplastic gallbladder.
Intestinal hypoplasia- MedGen UID:
- 867279
- •Concept ID:
- C4021640
- •
- Finding
Developmental hypoplasia of the intestine.
Extrahepatic biliary duct atresia- MedGen UID:
- 1621383
- •Concept ID:
- C4520983
- •
- Congenital Abnormality
Biliary atresia is a disorder of infants in which there is progressive obliteration or discontinuity of the extrahepatic biliary system, resulting in obstruction of bile flow. Untreated, the resulting cholestasis leads to progressive conjugated hyperbilirubinemia, cirrhosis, and hepatic failure (Bates et al., 1998). Most patients require liver transplantation within the first year of life (Leyva-Vega et al., 2010).
See also Alagille syndrome (118450), which includes biliary atresia as a feature.
Tracheoesophageal fistula- MedGen UID:
- 21228
- •Concept ID:
- C0040588
- •
- Anatomical Abnormality
An abnormal connection (fistula) between the esophagus and the trachea.
- Abnormality of the digestive system
- Abnormality of the genitourinary system
- Abnormality of the respiratory system
- Growth abnormality