From HPO
Congenital hypertrophic pyloric stenosis- MedGen UID:
- 196010
- •Concept ID:
- C0700639
- •
- Congenital Abnormality
Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss.
Frequent Giardia lamblia infestation- MedGen UID:
- 870778
- •Concept ID:
- C4025235
- •
- Finding
Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection.
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.
Chiari type I malformation- MedGen UID:
- 196689
- •Concept ID:
- C0750929
- •
- Congenital Abnormality
Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line)
Recurrent sinusitis- MedGen UID:
- 107919
- •Concept ID:
- C0581354
- •
- Disease or Syndrome
A recurrent form of sinusitis.
Recurrent pneumonia- MedGen UID:
- 195802
- •Concept ID:
- C0694550
- •
- Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Asthma- MedGen UID:
- 2109
- •Concept ID:
- C0004096
- •
- Disease or Syndrome
Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.
Onychomycosis- MedGen UID:
- 11825
- •Concept ID:
- C0040261
- •
- Disease or Syndrome
A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split.
Decreased circulating IgA level- MedGen UID:
- 57934
- •Concept ID:
- C0162538
- •
- Disease or Syndrome
Decreased levels of immunoglobulin A (IgA).
Decreased circulating total IgM- MedGen UID:
- 116095
- •Concept ID:
- C0239989
- •
- Finding
An abnormally decreased level of immunoglobulin M (IgM) in blood.
Psoriasiform dermatitis- MedGen UID:
- 75508
- •Concept ID:
- C0262985
- •
- Disease or Syndrome
A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).
Recurrent otitis media- MedGen UID:
- 155436
- •Concept ID:
- C0747085
- •
- Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Recurrent oral herpes- MedGen UID:
- 697662
- •Concept ID:
- C1274321
- •
- Disease or Syndrome
Recurrent episodes of oral herpes, typically characterized by blisters or ulcers on the gums, lips and/or tongue caused by herpes virus.
Combined immunodeficiency- MedGen UID:
- 751396
- •Concept ID:
- C2711630
- •
- Disease or Syndrome
A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications.
Anti-thyroid peroxidase antibody positivity- MedGen UID:
- 1392952
- •Concept ID:
- C4476743
- •
- Laboratory or Test Result
The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase.
Anti-thyroglobulin antibody positivity- MedGen UID:
- 1670955
- •Concept ID:
- C4732836
- •
- Finding
The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin.
Decreased circulating IgG level- MedGen UID:
- 1720114
- •Concept ID:
- C5234937
- •
- Finding
An abnormally decreased level of immunoglobulin G (IgG) in blood.
Recurrent viral upper respiratory tract infections- MedGen UID:
- 1739717
- •Concept ID:
- C5421654
- •
- Finding
An increased susceptibility to viral upper respiratory tract infections as manifested by a history of recurrent viral upper respiratory tract infections (otitis, sinusitis, pharyngitis, tonsillitis).
Hypoglycemia- MedGen UID:
- 6979
- •Concept ID:
- C0020615
- •
- Disease or Syndrome
A decreased concentration of glucose in the blood.
Alopecia totalis- MedGen UID:
- 75525
- •Concept ID:
- C0263504
- •
- Disease or Syndrome
Loss of all scalp hair.
Trachyonychia- MedGen UID:
- 107484
- •Concept ID:
- C0546956
- •
- Disease or Syndrome
Excessive longitudinal ridging that gives the surface of the nail plate a rough appearance. It results from multiple foci of defective keratinization of the proximal nail matrix.
Central adrenal insufficiency- MedGen UID:
- 184925
- •Concept ID:
- C0948387
- •
- Disease or Syndrome
A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected.
Abnormal response to ACTH stimulation test- MedGen UID:
- 1392823
- •Concept ID:
- C4476953
- •
- Finding
An anomolous response to stimulation by adminstration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline.
Decreased response to growth hormone stimulation test- MedGen UID:
- 1784655
- •Concept ID:
- C5539399
- •
- Finding
Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the endocrine system
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the nervous system
- Abnormality of the respiratory system