From HPO
Hydronephrosis- MedGen UID:
- 42531
- •Concept ID:
- C0020295
- •
- Disease or Syndrome
Severe distention of the kidney with dilation of the renal pelvis and calices.
Atresia of urethra- MedGen UID:
- 576882
- •Concept ID:
- C0345345
- •
- Congenital Abnormality
Congenital anomaly characterized by closure or failure to develop an opening in the urethra.
Enlarged kidney- MedGen UID:
- 108156
- •Concept ID:
- C0542518
- •
- Finding
An abnormal increase in the size of the kidney.
Hand polydactyly- MedGen UID:
- 510636
- •Concept ID:
- C0158733
- •
- Congenital Abnormality
A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.
Absent radius- MedGen UID:
- 235613
- •Concept ID:
- C1405984
- •
- Congenital Abnormality
Missing radius bone associated with congenital failure of development.
Short humerus- MedGen UID:
- 316907
- •Concept ID:
- C1832117
- •
- Congenital Abnormality
Underdevelopment of the humerus.
Proximal placement of thumb- MedGen UID:
- 356033
- •Concept ID:
- C1865572
- •
- Finding
Proximal mislocalization of the thumb.
Dextrocardia- MedGen UID:
- 4255
- •Concept ID:
- C0011813
- •
- Congenital Abnormality
The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.
Transposition of the great arteries- MedGen UID:
- 21245
- •Concept ID:
- C0040761
- •
- Congenital Abnormality
Although babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.\n\nSome people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.\n\nEach of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.\n\nPeople with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.\n\nCritical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.
Persistent left superior vena cava- MedGen UID:
- 75586
- •Concept ID:
- C0265931
- •
- Congenital Abnormality
A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress.
Atrioventricular canal defect- MedGen UID:
- 235591
- •Concept ID:
- C1389016
- •
- Anatomical Abnormality
A defect of the atrioventricular septum of the heart.
Abnormal cardiovascular system morphology- MedGen UID:
- 892473
- •Concept ID:
- C4049796
- •
- Anatomical Abnormality
Any structural anomaly of the heart and blood vessels.
Isomerism- MedGen UID:
- 1634559
- •Concept ID:
- C4554010
- •
- Congenital Abnormality
Isomerism in the context of the congenitally malformed heart is defined as a situation where some paired structures on opposite sides of the left-right axis of the body are, in morphologic terms, symmetrical mirror images of each other.
Imperforate anus- MedGen UID:
- 1997
- •Concept ID:
- C0003466
- •
- Congenital Abnormality
Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.
Esophageal atresia- MedGen UID:
- 4545
- •Concept ID:
- C0014850
- •
- Congenital Abnormality
A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach.
Hydrocephalus- MedGen UID:
- 9335
- •Concept ID:
- C0020255
- •
- Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
Abnormal vertebral morphology- MedGen UID:
- 371742
- •Concept ID:
- C1834129
- •
- Anatomical Abnormality
An abnormality of one or more of the vertebrae.
Abnormality of the vertebral column- MedGen UID:
- 892426
- •Concept ID:
- C4021789
- •
- Anatomical Abnormality
Any abnormality of the vertebral column.
Tracheoesophageal fistula- MedGen UID:
- 21228
- •Concept ID:
- C0040588
- •
- Anatomical Abnormality
An abnormal connection (fistula) between the esophagus and the trachea.
Laryngeal atresia- MedGen UID:
- 78572
- •Concept ID:
- C0265756
- •
- Congenital Abnormality
Congenital absence of the lumen of the larynx. Laryngeal atresia is a rare condition. If the laryngeal opening fails to develop, fluid secreted by the lungs cannot be expelled. In a fetus with laryngeal atresia, the lungs are either normal or hyperplastic, not hypoplastic. Mortality is reported as 100%. At obstetric US examination, views of the fetal neck demonstrate a dilated trachea filled with trapped fluid. Views of the fetal chest show enlarged, hyperechoic lungs, with dilated fluid-filled bronchi. Fetal ascites is usually present.
Pulmonary hypoplasia- MedGen UID:
- 78574
- •Concept ID:
- C0265783
- •
- Congenital Abnormality
A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities.
Sacral dimple- MedGen UID:
- 98428
- •Concept ID:
- C0426848
- •
- Finding
A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft.
Polyhydramnios- MedGen UID:
- 6936
- •Concept ID:
- C0020224
- •
- Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
Absence of stomach bubble on fetal sonography- MedGen UID:
- 869203
- •Concept ID:
- C4023625
- •
- Finding
By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation.
- Abnormality of limbs
- Abnormality of prenatal development or birth
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the genitourinary system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Growth abnormality