From HPO
Hydrocele testis- MedGen UID:
- 318568
- •Concept ID:
- C1720771
- •
- Congenital Abnormality
Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.
Inguinal hernia- MedGen UID:
- 6817
- •Concept ID:
- C0019294
- •
- Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Pleural thickening- MedGen UID:
- 538648
- •Concept ID:
- C0264545
- •
- Disease or Syndrome
An increase in the thickness of the pleura, generally related to scarring of the pleural tissue.
Recurrent upper and lower respiratory tract infections- MedGen UID:
- 375014
- •Concept ID:
- C1842777
- •
- Finding
Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections.
Neonatal respiratory distress- MedGen UID:
- 924182
- •Concept ID:
- C4281993
- •
- Finding
Respiratory difficulty as newborn.
Lymphedema- MedGen UID:
- 6155
- •Concept ID:
- C0024236
- •
- Disease or Syndrome
Localized fluid retention and tissue swelling caused by a compromised lymphatic system.
Hyperkeratosis- MedGen UID:
- 209030
- •Concept ID:
- C0870082
- •
- Disease or Syndrome
Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
Polyhydramnios- MedGen UID:
- 6936
- •Concept ID:
- C0020224
- •
- Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
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).
Fetal ascites- MedGen UID:
- 226930
- •Concept ID:
- C1285291
- •
- Disease or Syndrome
Accumulation of fluid in the peritoneal cavity during the fetal period.
Fetal pleural effusion- MedGen UID:
- 759277
- •Concept ID:
- C3532164
- •
- Pathologic Function
Fetal pleural effusion is the accumulation of excess fluid in the layers of tissue (pleura) lining the lungs and wall of the chest. It may be primary, also termed hydrothorax, occurring as an isolated finding or it may be secondary, most commonly resulting from non-immune hydrops.
Fetal pericardial effusion- MedGen UID:
- 759278
- •Concept ID:
- C3532165
- •
- Pathologic Function
An abnormal accumulation of fluid in which the heart is partially or completely surrounded by fluid that is seen in all views and the thickness of the fluid as observed by prenatal ultrasound is above age-dependent norms.
Fetal chylothorax- MedGen UID:
- 1814192
- •Concept ID:
- C5676614
- •
- Pathologic Function
The presence of chyle (a type of lipid-rich lymph) in the pleural space (the space surrounding the lung) as observed in a fetus.
- Abnormality of metabolism/homeostasis
- Abnormality of prenatal development or birth
- Abnormality of the genitourinary system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the respiratory system