From HPO
Ankle clonus- MedGen UID:
- 68672
- •Concept ID:
- C0238651
- •
- Finding
Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.
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.
Hepatitis- MedGen UID:
- 5515
- •Concept ID:
- C0019158
- •
- Disease or Syndrome
Inflammation of the liver.
Chronic hepatitis- MedGen UID:
- 9223
- •Concept ID:
- C0019189
- •
- Disease or Syndrome
Hepatitis that lasts for more than six months.
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Cirrhosis of liver- MedGen UID:
- 7368
- •Concept ID:
- C0023890
- •
- Disease or Syndrome
A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.
Hyperreflexia- MedGen UID:
- 57738
- •Concept ID:
- C0151889
- •
- Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
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.
Developmental regression- MedGen UID:
- 324613
- •Concept ID:
- C1836830
- •
- Disease or Syndrome
Loss of developmental skills, as manifested by loss of developmental milestones.
Hemolytic anemia- MedGen UID:
- 1916
- •Concept ID:
- C0002878
- •
- Disease or Syndrome
A type of anemia caused by premature destruction of red blood cells (hemolysis).
Thrombocytopenia- MedGen UID:
- 52737
- •Concept ID:
- C0040034
- •
- Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Hypoxemia- MedGen UID:
- 152145
- •Concept ID:
- C0700292
- •
- Finding
An abnormally low level of blood oxygen.
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.
Sclerosing cholangitis- MedGen UID:
- 3036
- •Concept ID:
- C0008313
- •
- Disease or Syndrome
Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative.
Dysgammaglobulinemia- MedGen UID:
- 41679
- •Concept ID:
- C0013374
- •
- Disease or Syndrome
Selective deficiency of one or more, but not all, classes of immunoglobulins.
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.
Meningitis- MedGen UID:
- 6298
- •Concept ID:
- C0025289
- •
- Disease or Syndrome
Inflammation of the meninges.
Sepsis- MedGen UID:
- 48626
- •Concept ID:
- C0036690
- •
- Disease or Syndrome
Systemic inflammatory response to infection.
Splenomegaly- MedGen UID:
- 52469
- •Concept ID:
- C0038002
- •
- Finding
Abnormal increased size of the spleen.
Stomatitis- MedGen UID:
- 52511
- •Concept ID:
- C0038362
- •
- Disease or Syndrome
Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth.
Decreased circulating IgA level- MedGen UID:
- 57934
- •Concept ID:
- C0162538
- •
- Disease or Syndrome
Decreased levels of immunoglobulin A (IgA).
Increased circulating IgA level- MedGen UID:
- 66800
- •Concept ID:
- C0239984
- •
- Finding
An abnormally increased level of immunoglobulin A in blood.
Enlarged tonsils- MedGen UID:
- 78800
- •Concept ID:
- C0272386
- •
- Disease or Syndrome
Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat.
Enteroviral encephalitis- MedGen UID:
- 572543
- •Concept ID:
- C0338401
- •
- Disease or Syndrome
Inflamation of the brain related to infection by an enterovirus.
Decreased circulating IgE- MedGen UID:
- 1714318
- •Concept ID:
- C0853668
- •
- Finding
An abnormally decreased level of immunoglobulin E (IgE) in blood.
Neutropenia- MedGen UID:
- 163121
- •Concept ID:
- C0853697
- •
- Finding
An abnormally low number of neutrophils in the peripheral blood.
Increased circulating IgM level- MedGen UID:
- 333454
- •Concept ID:
- C1839972
- •
- Finding
An abnormally increased level of immunoglobulin M in blood.
Impaired Ig class switch recombination- MedGen UID:
- 374953
- •Concept ID:
- C1842528
- •
- Finding
An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE.
Recurrent bacterial infections- MedGen UID:
- 334943
- •Concept ID:
- C1844383
- •
- Finding
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
Decreased T cell activation- MedGen UID:
- 339550
- •Concept ID:
- C1846550
- •
- Finding
Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.
Absence of lymph node germinal center- MedGen UID:
- 376112
- •Concept ID:
- C1847383
- •
- Finding
Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses.
Chronic oral candidiasis- MedGen UID:
- 870166
- •Concept ID:
- C4024599
- •
- Disease or Syndrome
Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx.
Impaired memory B cell generation- MedGen UID:
- 871195
- •Concept ID:
- C4025672
- •
- Cell or Molecular Dysfunction
Impaired production of memory cells, the B cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge.
Abnormal circulating IgM level- MedGen UID:
- 1688699
- •Concept ID:
- C5139423
- •
- Finding
An abnormal deviation from normal levels of IgM immunoglobulin in blood.
Decreased circulating IgG level- MedGen UID:
- 1720114
- •Concept ID:
- C5234937
- •
- Finding
An abnormally decreased level of immunoglobulin G (IgG) in blood.
Pneumocystis carinii pneumonia- MedGen UID:
- 994080
- •Concept ID:
- CN315554
- •
- Finding
Pneumocystis carinii pneumonia is an opportunistic infection that occurs in immunosuppressed populations.
Gingivitis- MedGen UID:
- 4895
- •Concept ID:
- C0017574
- •
- Disease or Syndrome
Inflammation of the gingiva.
Oral ulcer- MedGen UID:
- 57699
- •Concept ID:
- C0149745
- •
- Disease or Syndrome
Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.
- Abnormality of blood and blood-forming tissues
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the digestive system
- Abnormality of the immune system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Growth abnormality