From HPO
Tubulointerstitial fibrosis- MedGen UID:
- 370652
- •Concept ID:
- C1969372
- •
- Disease or Syndrome
A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy.
Cor pulmonale- MedGen UID:
- 18765
- •Concept ID:
- C0034072
- •
- Disease or Syndrome
Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle.
Failure to thrive- MedGen UID:
- 746019
- •Concept ID:
- C2315100
- •
- Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Cough- MedGen UID:
- 41325
- •Concept ID:
- C0010200
- •
- Sign or Symptom
A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.
Tachypnea- MedGen UID:
- 66669
- •Concept ID:
- C0231835
- •
- Finding
Very rapid breathing.
Desquamative interstitial pneumonia- MedGen UID:
- 65962
- •Concept ID:
- C0238378
- •
- Disease or Syndrome
Interstitial lung disease (ILD), or pneumonitis, is a heterogeneous group of disorders characterized pathologically by expansion of the interstitial compartment of the lung by inflammatory cells. Fibrosis occurs in many cases (Visscher and Myers, 2006). See also interstitial lung disease-1 (ILD1; 619611).
Desquamative interstitial pneumonitis (DIP) was originally described as a pathologic entity by Liebow et al. (1965). Lung biopsy shows diffuse and uniform filling of alveoli by clusters of cells which Liebow et al. (1965) speculated to be 'desquamated pneumocytes.' Since then, these cells have been shown primarily to be pigmented alveolar macrophages. Other features include thickened alveolar septa with an infiltrate of inflammatory cells and plump, cuboidal type II pneumocytes. Mild collagen deposition without architectural distortion or honeycombing may be present. Different forms of ILD represent pathologic classifications based on histologic patterns rather than clinical diagnoses and may occur in a variety of clinical contexts (Visscher and Myers, 2006).
Although DIP occurs most often as a sporadic disorder in adults during the third to fifth decade of life and is highly associated with smoking (Carrington et al., 1978), reports of a familial form with onset in infancy and early death suggest a genetic basis (Sharief et al., 1994).
Cases of DIP reported in infants are often more severe and refractory to treatment than those reported in adults (Nogee et al., 2001).
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.
Recurrent upper respiratory tract infections- MedGen UID:
- 154380
- •Concept ID:
- C0581381
- •
- Disease or Syndrome
An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
Respiratory failure- MedGen UID:
- 257837
- •Concept ID:
- C1145670
- •
- Disease or Syndrome
A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.
Type II pneumocyte hypertrophy- MedGen UID:
- 1785168
- •Concept ID:
- C5539455
- •
- Finding
Increase in size of type II pneumocytes, characterized by qualitative morphologic alterations, including cuboidal shapes, increased nucleocytoplasmic ratio, enlarged nuclei, prominent nucleoli, and various alterations in their nuclear chromatin.
Abnormality of metabolism/homeostasis- MedGen UID:
- 867398
- •Concept ID:
- C4021768
- •
- Finding
Cyanosis- MedGen UID:
- 1189
- •Concept ID:
- C0010520
- •
- Sign or Symptom
Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the genitourinary system
- Abnormality of the integument
- Abnormality of the respiratory system
- Growth abnormality