Phenotypes associated with the disease Congenital lobar emphysema (ORPHA:1928):
- Emphysema (HP:0002097). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1928)
- Respiratory distress (HP:0002098): 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. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1928)
- Cyanosis (HP:0000961): Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1928)
- Tachycardia (HP:0001649): A rapid heartrate that exceeds the range of the normal resting heartrate for age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1928)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1928)
- Abnormality of immune system physiology (HP:0010978): A functional abnormality of the immune system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1928)
- Wheezing (HP:0030828): A high-pitched whistling sound associated with labored breathing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1928)
- Mediastinal shift (HP:6000012): A deviation of the mediastinum from its normal position in the midline of the thoracic cavity. The mediastinum is a compartment of the thoracic cavity that contains the heart and its blood vessels, the esophagus, trachea, thymus, as well as nerves and lymph nodes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1928)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1928)
- Asymmetry of the thorax (HP:0001555): Lack of symmetry between the left and right halves of the thorax. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1928)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1928)
- Abnormal cardiovascular system morphology (HP:0030680): Any structural anomaly of the heart and blood vessels. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1928)
- Atelectasis (HP:0100750): Collapse of part of a lung associated with absence of inflation (air) of that part. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1928)