From HPO
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.
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Chronic diarrhea- MedGen UID:
- 96036
- •Concept ID:
- C0401151
- •
- Finding
The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
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.
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.
Pneumonia- MedGen UID:
- 10813
- •Concept ID:
- C0032285
- •
- Disease or Syndrome
Inflammation of any part of the lung parenchyma.
Splenomegaly- MedGen UID:
- 52469
- •Concept ID:
- C0038002
- •
- Finding
Abnormal increased size of the spleen.
Panhypogammaglobulinemia- MedGen UID:
- 233072
- •Concept ID:
- C1328587
- •
- Finding
A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes.
Recurrent candida infections- MedGen UID:
- 348028
- •Concept ID:
- C1860128
- •
- Finding
An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections.
Abnormal B cell count- MedGen UID:
- 866853
- •Concept ID:
- C4021208
- •
- Finding
A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells.
Absence of CD8-positive T cells- MedGen UID:
- 870742
- •Concept ID:
- C4025197
- •
- Finding
Lack of detectible CD8-positive T cells
Impaired lymphocyte transformation with phytohemagglutinin- MedGen UID:
- 871152
- •Concept ID:
- C4025625
- •
- Finding
Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes.
Pneumocystis carinii pneumonia- MedGen UID:
- 994080
- •Concept ID:
- CN315554
- •
- Finding
Pneumocystis carinii pneumonia is an opportunistic infection that occurs in immunosuppressed populations.
- Abnormality of the digestive system
- Abnormality of the immune system
- Abnormality of the respiratory system
- Growth abnormality