From HPO
Verrucae- MedGen UID:
- 777120
- •Concept ID:
- C3665596
- •
- Finding
Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas.
Clubbing- MedGen UID:
- 57692
- •Concept ID:
- C0149651
- •
- Anatomical Abnormality
Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.
Lower limb muscle weakness- MedGen UID:
- 324478
- •Concept ID:
- C1836296
- •
- Finding
Weakness of the muscles of the legs.
Postnatal growth retardation- MedGen UID:
- 395343
- •Concept ID:
- C1859778
- •
- Finding
Slow or limited growth after birth.
Intermittent diarrhea- MedGen UID:
- 66782
- •Concept ID:
- C0239181
- •
- Sign or Symptom
Repeated episodes of diarrhea separated by periods without diarrhea.
Global developmental delay- MedGen UID:
- 107838
- •Concept ID:
- C0557874
- •
- Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Anemia- MedGen UID:
- 1526
- •Concept ID:
- C0002871
- •
- Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Muscular atrophy- MedGen UID:
- 892680
- •Concept ID:
- C0541794
- •
- Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Fatty replacement of skeletal muscle- MedGen UID:
- 866735
- •Concept ID:
- C4021082
- •
- Finding
Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers
Eczematoid dermatitis- MedGen UID:
- 3968
- •Concept ID:
- C0013595
- •
- Disease or Syndrome
Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.
Immunodeficiency- MedGen UID:
- 7034
- •Concept ID:
- C0021051
- •
- Disease or Syndrome
Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
Intestinal lymphangiectasia- MedGen UID:
- 9828
- •Concept ID:
- C0024215
- •
- Disease or Syndrome
Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines.
Splenomegaly- MedGen UID:
- 52469
- •Concept ID:
- C0038002
- •
- Finding
Abnormal increased size of the spleen.
Esophageal candidiasis- MedGen UID:
- 66784
- •Concept ID:
- C0239295
- •
- Disease or Syndrome
Candida infections of the esophagus are considered opportunistic infections and are seen most commonly in immunosuppressed patients, the most common symptoms being dysphagia, odynophagia, and retrosternal pain.
Recurrent viral infections- MedGen UID:
- 332357
- •Concept ID:
- C1837066
- •
- Finding
Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.
Recurrent bacterial infections- MedGen UID:
- 334943
- •Concept ID:
- C1844383
- •
- Finding
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
T lymphocytopenia- MedGen UID:
- 419385
- •Concept ID:
- C2931322
- •
- Finding
An abnormally low count of T cells.
Reduced antigen-specific T cell proliferation- MedGen UID:
- 1621145
- •Concept ID:
- C4531148
- •
- Finding
Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus.
Superficial dermal perivascular inflammatory infiltrate- MedGen UID:
- 1620848
- •Concept ID:
- C4531290
- •
- Anatomical Abnormality
Numerous lymphocytes surrounding blood vessels in the superficial part of the dermis.
Decreased proportion of memory T cells- MedGen UID:
- 1689962
- •Concept ID:
- C5139180
- •
- Finding
An abnormally reduced proportion of memory T cells compared to the total number of T cells in the blood.
Partial absence of specific antibody response to unconjugated pneumococcus vaccine- MedGen UID:
- 1686478
- •Concept ID:
- C5139464
- •
- Finding
A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination.
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine- MedGen UID:
- 1706490
- •Concept ID:
- C5139468
- •
- Finding
A reduced ability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination.
Decreased circulating IgG concentration- MedGen UID:
- 1720114
- •Concept ID:
- C5234937
- •
- Finding
An abnormally decreased level of immunoglobulin G (IgG) in blood.
Elevated erythrocyte sedimentation rate- MedGen UID:
- 57727
- •Concept ID:
- C0151632
- •
- Finding
An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.
Hypoalbuminemia- MedGen UID:
- 68694
- •Concept ID:
- C0239981
- •
- Finding
Reduction in the concentration of albumin in the blood.
Recurrent fever- MedGen UID:
- 811468
- •Concept ID:
- C3714772
- •
- Sign or Symptom
Periodic (episodic or recurrent) bouts of fever.
Abnormal circulating creatine kinase concentration- MedGen UID:
- 868058
- •Concept ID:
- C4022449
- •
- Finding
Any deviation from the normal circulating creatine kinase concentration.
Elevated circulating C-reactive protein concentration- MedGen UID:
- 892906
- •Concept ID:
- C4023452
- •
- Finding
An abnormal elevation of the C-reactive protein level in the blood circulation.
Elevated haptoglobin level- MedGen UID:
- 1698119
- •Concept ID:
- C5209263
- •
- Finding
An abnormally high concentration of haptoglobin in the blood circulation. Haptoglobin is an acute-phase reactant whose levels can become elevated in the presence of infection and inflammation.
Neonatal omphalitis- MedGen UID:
- 510678
- •Concept ID:
- C0158947
- •
- Disease or Syndrome
An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period.
- Abnormality of blood and blood-forming tissues
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of prenatal development or birth
- Abnormality of the digestive system
- Abnormality of the immune system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Growth abnormality
- Neoplasm