From HPO
Abnormal renal physiology- MedGen UID:
- 508816
- •Concept ID:
- C0151746
- •
- Pathologic Function
An abnormal functionality of the kidney.
Glomerular sclerosis- MedGen UID:
- 61248
- •Concept ID:
- C0178664
- •
- Disease or Syndrome
Accumulation of scar tissue within the glomerulus.
Hypertensive disorder- MedGen UID:
- 6969
- •Concept ID:
- C0020538
- •
- Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Tachycardia- MedGen UID:
- 21453
- •Concept ID:
- C0039231
- •
- Finding
A rapid heartrate that exceeds the range of the normal resting heartrate for age.
Growth delay- MedGen UID:
- 99124
- •Concept ID:
- C0456070
- •
- Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Constipation- MedGen UID:
- 1101
- •Concept ID:
- C0009806
- •
- Sign or Symptom
Infrequent or difficult evacuation of feces.
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.
Vomiting- MedGen UID:
- 12124
- •Concept ID:
- C0042963
- •
- Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Feeding difficulties in infancy- MedGen UID:
- 436211
- •Concept ID:
- C2674608
- •
- Finding
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
Gastroesophageal reflux- MedGen UID:
- 1368658
- •Concept ID:
- C4317146
- •
- Finding
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
Orthostatic hypotension- MedGen UID:
- 43803
- •Concept ID:
- C0020651
- •
- Disease or Syndrome
A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position.
Emotional lability- MedGen UID:
- 39319
- •Concept ID:
- C0085633
- •
- Mental or Behavioral Dysfunction
Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.
Incoordination- MedGen UID:
- 141714
- •Concept ID:
- C0520966
- •
- Finding
Hyporeflexia- MedGen UID:
- 195967
- •Concept ID:
- C0700078
- •
- Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
Decreased number of large peripheral myelinated nerve fibers- MedGen UID:
- 395303
- •Concept ID:
- C1859606
- •
- Finding
A reduced number of large myelinated nerve fibers.
Neuropathic arthropathy- MedGen UID:
- 13919
- •Concept ID:
- C0003892
- •
- Disease or Syndrome
Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly tabes dorsalis, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)
Hypotonia- MedGen UID:
- 10133
- •Concept ID:
- C0026827
- •
- Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Generalized hypotonia- MedGen UID:
- 346841
- •Concept ID:
- C1858120
- •
- Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Recurrent infections due to aspiration- MedGen UID:
- 812615
- •Concept ID:
- C3806285
- •
- Finding
Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration.
Decreased sensitivity to hypoxemia- MedGen UID:
- 812616
- •Concept ID:
- C3806286
- •
- Finding
Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration.
Increased blood urea nitrogen- MedGen UID:
- 760252
- •Concept ID:
- C0151539
- •
- Finding
An increased amount of nitrogen in the form of urea in the blood.
Elevated circulating creatinine concentration- MedGen UID:
- 148579
- •Concept ID:
- C0700225
- •
- Finding
An increased amount of creatinine in the blood.
Recurrent fever- MedGen UID:
- 811468
- •Concept ID:
- C3714772
- •
- Sign or Symptom
Periodic (episodic or recurrent) bouts of fever.
Hypogeusia- MedGen UID:
- 57498
- •Concept ID:
- C0151934
- •
- Finding
A decreased ability to perceive flavor.
Acrocyanosis- MedGen UID:
- 65138
- •Concept ID:
- C0221347
- •
- Finding
Bluish discoloration of the skin of the hands or feet.
Episodic hyperhidrosis- MedGen UID:
- 387757
- •Concept ID:
- C1857171
- •
- Finding
Intermittent episodes of abnormally increased perspiration.
Corneal ulceration- MedGen UID:
- 40486
- •Concept ID:
- C0010043
- •
- Disease or Syndrome
Disruption of the epithelial layer of the cornea with involvement of the underlying stroma.
Decreased corneal reflex- MedGen UID:
- 57723
- •Concept ID:
- C0151572
- •
- Finding
An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids.
Recurrent corneal erosions- MedGen UID:
- 56353
- •Concept ID:
- C0155119
- •
- Disease or Syndrome
The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations.
Alacrima- MedGen UID:
- 87488
- •Concept ID:
- C0344505
- •
- Disease or Syndrome
Absence of tear secretion.
Pupillary hypersensitivity to parasympathomimetic agents- MedGen UID:
- 1052816
- •Concept ID:
- CN378345
- •
- Finding
A higher than normal tendency of parasympathomimetic agents to induce miosis.
- Abnormality of head or neck
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Growth abnormality