From HPO
Atrial septal defect- MedGen UID:
- 6753
- •Concept ID:
- C0018817
- •
- Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Pericardial effusion- MedGen UID:
- 10653
- •Concept ID:
- C0031039
- •
- Disease or Syndrome
Accumulation of fluid within the pericardium.
Varicose disease- MedGen UID:
- 21827
- •Concept ID:
- C0042345
- •
- Disease or Syndrome
Enlarged and tortuous veins.
Abdominal distention- MedGen UID:
- 34
- •Concept ID:
- C0000731
- •
- Finding
Distention of the abdomen.
Ascites- MedGen UID:
- 416
- •Concept ID:
- C0003962
- •
- Disease or Syndrome
Accumulation of fluid in the peritoneal cavity.
Anemia- MedGen UID:
- 1526
- •Concept ID:
- C0002871
- •
- Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Chylothorax- MedGen UID:
- 40305
- •Concept ID:
- C0008733
- •
- Disease or Syndrome
Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity.
Pleural effusion- MedGen UID:
- 10805
- •Concept ID:
- C0032227
- •
- Disease or Syndrome
The presence of an excessive amount of fluid in the pleural cavity.
Pulmonary edema- MedGen UID:
- 11026
- •Concept ID:
- C0034063
- •
- Pathologic Function
Fluid accumulation in the lungs.
Respiratory distress- MedGen UID:
- 96907
- •Concept ID:
- C0476273
- •
- Sign or Symptom
Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.
Edema- MedGen UID:
- 4451
- •Concept ID:
- C0013604
- •
- Pathologic Function
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
Lymphedema- MedGen UID:
- 6155
- •Concept ID:
- C0024236
- •
- Disease or Syndrome
Localized fluid retention and tissue swelling caused by a compromised lymphatic system.
Facial edema- MedGen UID:
- 154241
- •Concept ID:
- C0542571
- •
- Pathologic Function
Swelling due to an excessive accumulation of fluid in facial tissues.
Non-immune hydrops fetalis- MedGen UID:
- 105327
- •Concept ID:
- C0455988
- •
- Disease or Syndrome
Hydrops fetalis is a descriptive term for generalized edema of the fetus, with fluid accumulation in extravascular components and body cavities. It is not a diagnosis in itself, but a symptom and end-stage result of a wide variety of disorders. In the case of immune hydrops fetalis, a frequent cause is maternofetal incompatibility as in that related to a number of genetic anemias and metabolic disorders expressed in the fetus; in other instances, it remains idiopathic and likely multifactorial (summary by Bellini et al., 2009).
Nonimmune hydrops fetalis accounts for 76 to 87% of all described cases of hydrops fetalis (Bellini et al., 2009).
Genetic Heterogeneity of Hydrops Fetalis
In southeast Asia, alpha-thalassemia (604131) is the most common cause of hydrops fetalis, accounting for 60 to 90% of cases. Almost all of these cases result from homozygous deletion of the HBA1 (141800) and HBA2 (141850) genes. A few cases have been reported that had 1 apparently normal alpha-globin gene, termed the hemoglobin H (613978) hydrops fetalis syndrome (summary by Chui and Waye, 1998).
Other genetic disorders predisposing to NIHF include other congenital anemias, such as erythropoietic porphyria (e.g., 606938.0013), and many metabolic disorders, such as one form of Gaucher disease (e.g., 606463.0009), infantile sialic acid storage disease (269920), mucopolysaccharidosis type VII (253220), glycogen storage disease IV (232500), congenital disorder of glycosylation type Ia (212065), and disorders of lymphatic malformation (see, e.g., LMPHM1, 153100).
Increased nuchal translucency- MedGen UID:
- 869253
- •Concept ID:
- C4023676
- •
- Finding
Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy).
- Abnormality of blood and blood-forming tissues
- Abnormality of head or neck
- Abnormality of metabolism/homeostasis
- Abnormality of prenatal development or birth
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the respiratory system