From HPO
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.
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.
Diarrhea- MedGen UID:
- 8360
- •Concept ID:
- C0011991
- •
- Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Intestinal malrotation- MedGen UID:
- 113153
- •Concept ID:
- C0221210
- •
- Congenital Abnormality
An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.
Anemia- MedGen UID:
- 1526
- •Concept ID:
- C0002871
- •
- Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Thrombocytopenia- MedGen UID:
- 52737
- •Concept ID:
- C0040034
- •
- Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Recurrent lower respiratory tract infections- MedGen UID:
- 756211
- •Concept ID:
- C3163798
- •
- Disease or Syndrome
An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
Histoplasmosis- MedGen UID:
- 42468
- •Concept ID:
- C0019655
- •
- Disease or Syndrome
Histoplasmosis is caused by the fungus Histoplasma capsulatum and is consider to be an opportunistic infection in immunosuppressed persons.
Leukopenia- MedGen UID:
- 6073
- •Concept ID:
- C0023530
- •
- Disease or Syndrome
An abnormal decreased number of leukocytes in the blood.
Lymphadenitis- MedGen UID:
- 7410
- •Concept ID:
- C0024205
- •
- Disease or Syndrome
Inflammation of a lymph node.
Pneumonia- MedGen UID:
- 10813
- •Concept ID:
- C0032285
- •
- Disease or Syndrome
Inflammation of any part of the lung parenchyma.
Sinusitis- MedGen UID:
- 20772
- •Concept ID:
- C0037199
- •
- Disease or Syndrome
Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.
Splenomegaly- MedGen UID:
- 52469
- •Concept ID:
- C0038002
- •
- Finding
Abnormal increased size of the spleen.
Pustular rash- MedGen UID:
- 43222
- •Concept ID:
- C0085641
- •
- Sign or Symptom
A rash composed of pustular lesions. A pustule is defined as a vesicle or bulla containing purulent material. It varies in size and may occur at different levels within the epidermis
Increased circulating IgA concentration- MedGen UID:
- 66800
- •Concept ID:
- C0239984
- •
- Finding
An abnormally increased level of immunoglobulin A in blood.
Axillary lymphadenopathy- MedGen UID:
- 107913
- •Concept ID:
- C0578735
- •
- Pathologic Function
Enlarged lymph node located in the axillary region (armpit).
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.
T lymphocytopenia- MedGen UID:
- 419385
- •Concept ID:
- C2931322
- •
- Finding
An abnormally low count of T cells.
BCGosis- MedGen UID:
- 823215
- •Concept ID:
- C3830467
- •
- Disease or Syndrome
Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis.
Recurrent mycobacterial infections- MedGen UID:
- 869021
- •Concept ID:
- C4023438
- •
- Finding
Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection.
Increased proportion of transitional B cells- MedGen UID:
- 892766
- •Concept ID:
- C4072920
- •
- Finding
An elevation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.
BCGitis- MedGen UID:
- 1684722
- •Concept ID:
- C5139070
- •
- Disease or Syndrome
Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination.
Nontuberculous mycobacterial pulmonary infection- MedGen UID:
- 1700174
- •Concept ID:
- C5139228
- •
- Disease or Syndrome
An infection of the lung caused by environmental mycobacteria. Such infections can occur in individuals with predisposing lung disease or immune disease.
Disseminated nontuberculous mycobacterial infection- MedGen UID:
- 1687715
- •Concept ID:
- C5139240
- •
- Disease or Syndrome
An infection with nontuberculous mycobacteria that affects multiple body sites. Such infections can occur in individuals with immune disease.
Decreased proportion of naive CD8 T cells- MedGen UID:
- 1694295
- •Concept ID:
- C5139538
- •
- Finding
An abnormally reduced proportion of naive CD8 T cells relative to the total number of T cells.
Decreased proportion of central memory CD8-positive, alpha-beta T cells- MedGen UID:
- 1686898
- •Concept ID:
- C5139550
- •
- Finding
A reduced proportion of CD8-positive, alpha-beta central memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.
Increased proportion of effector memory CD8-positive, alpha-beta T cells- MedGen UID:
- 1690695
- •Concept ID:
- C5139556
- •
- Finding
An increased proportion of effector memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.
Increased proportion of CD8-positive, alpha-beta TEMRA T cells- MedGen UID:
- 1717191
- •Concept ID:
- C5398015
- •
- Finding
An increased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative.
Fever- MedGen UID:
- 5169
- •Concept ID:
- C0015967
- •
- Sign or Symptom
Body temperature elevated above the normal range.
Positive Mycobacterium avium sputum culture- MedGen UID:
- 1863476
- •Concept ID:
- C5936862
- •
- Laboratory or Test Result
Growth of mycobacterium avium in a sputum culture.
Mediastinal lymphadenopathy- MedGen UID:
- 451062
- •Concept ID:
- C0520743
- •
- Disease or Syndrome
Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes.
Cafe-au-lait spot- MedGen UID:
- 113157
- •Concept ID:
- C0221263
- •
- Finding
Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.
- Abnormality of blood and blood-forming tissues
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the respiratory system
- Abnormality of the thoracic cavity
- Growth abnormality