From HPO
Radial bowing- MedGen UID:
- 347136
- •Concept ID:
- C1859399
- •
- Anatomical Abnormality
A bending or abnormal curvature of the radius.
Hypoplasia of the ulna- MedGen UID:
- 395934
- •Concept ID:
- C1860614
- •
- Congenital Abnormality
Underdevelopment of the ulna.
Bronchiectasis- MedGen UID:
- 14234
- •Concept ID:
- C0006267
- •
- Disease or Syndrome
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
Organizing pneumonia- MedGen UID:
- 538531
- •Concept ID:
- C0264383
- •
- Disease or Syndrome
Organizing pneumonia manifests as a histologic pattern characterized by loose plugs of connective tissue in the airspaces and distal airways. Interstitial inflammation and fibrosis are minimal or absent. Cryptogenic organizing pneumonia, or COP, is a distinctive clinical disorder among the idiopathic interstitial pneumonias, but the histologic pattern of organizing pneumonia is encountered in many different situations, including pulmonary infection, hypersensitivity pneumonitis, and collagen vascular diseases. Airspace consolidation is the cardinal feature of organizing pneumonia on chest radiographs and CT scans. In COP, the distribution is typically subpleural and basal and sometimes bronchocentric. Other manifestations of organizing pneumonia include groundglass opacity, tree-in-bud pattern, and nodular opacities.
Recurrent respiratory infections- MedGen UID:
- 812812
- •Concept ID:
- C3806482
- •
- Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Lung abscess- MedGen UID:
- 7397
- •Concept ID:
- C0024110
- •
- Disease or Syndrome
A circumscribed area of pus or necrotic debris in lung parenchyma, which leads to a cavity, and after formation of bronchopulmonary fistula, can manifest as an air-fluid level inside the cavity.
B lymphocytopenia- MedGen UID:
- 340780
- •Concept ID:
- C1855067
- •
- Finding
An abnormal decrease from the normal count of B cells.
Reduced natural killer cell count- MedGen UID:
- 383765
- •Concept ID:
- C1855767
- •
- Finding
Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor.
Abnormal circulating IgA level- MedGen UID:
- 1706440
- •Concept ID:
- C5139420
- •
- Finding
An abnormal deviation from normal levels of IgA immunoglobulin in blood.
Abnormal circulating IgM level- MedGen UID:
- 1688699
- •Concept ID:
- C5139423
- •
- Finding
An abnormal deviation from normal levels of IgM immunoglobulin in blood.
Decreased specific antibody response to polysaccharide vaccine- MedGen UID:
- 1708273
- •Concept ID:
- C5139462
- •
- Finding
A reduced ability to synthesize postvaccination antibodies against polysaccharides in vaccines, as measured by antibody titer determination following vaccination.
Decreased circulating IgG level- MedGen UID:
- 1720114
- •Concept ID:
- C5234937
- •
- Finding
An abnormally decreased level of immunoglobulin G (IgG) in blood.
Hypoalbuminemia- MedGen UID:
- 68694
- •Concept ID:
- C0239981
- •
- Finding
Reduction in the concentration of albumin in the blood.
Hypoproteinemia- MedGen UID:
- 581229
- •Concept ID:
- C0392692
- •
- Finding
A decreased concentration of protein in the blood.
Decreased circulating beta-2-microglobulin level- MedGen UID:
- 1371004
- •Concept ID:
- C4476717
- •
- Finding
Reduced concentration of beta-2-microglobulin in the blood.
Subcutaneous nodule- MedGen UID:
- 101803
- •Concept ID:
- C0151811
- •
- Pathologic Function
Slightly elevated lesions on or in the skin with a diameter of over 5 mm.
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the respiratory system