From HPO
Hematuria- MedGen UID:
- 5488
- •Concept ID:
- C0018965
- •
- Disease or Syndrome
The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).
Cor pulmonale- MedGen UID:
- 18765
- •Concept ID:
- C0034072
- •
- Disease or Syndrome
Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle.
Melena- MedGen UID:
- 7523
- •Concept ID:
- C0025222
- •
- Pathologic Function
The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.
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.
Hearing impairment- MedGen UID:
- 235586
- •Concept ID:
- C1384666
- •
- Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Photophobia- MedGen UID:
- 43220
- •Concept ID:
- C0085636
- •
- Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
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.
Rhinorrhea- MedGen UID:
- 226777
- •Concept ID:
- C1260880
- •
- Sign or Symptom
Increased discharge of mucus from the nose.
Fibrocystic lung disease- MedGen UID:
- 853254
- •Concept ID:
- C1397290
- •
- Disease or Syndrome
Chronic mucocutaneous candidiasis- MedGen UID:
- 2426
- •Concept ID:
- C0006845
- •
- Disease or Syndrome
Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails.
Eosinophilia- MedGen UID:
- 41824
- •Concept ID:
- C0014457
- •
- Disease or Syndrome
Increased count of eosinophils in the blood.
Keratoconjunctivitis- MedGen UID:
- 44014
- •Concept ID:
- C0022573
- •
- Disease or Syndrome
Inflammation of the cornea and conjunctiva.
Pneumonia- MedGen UID:
- 10813
- •Concept ID:
- C0032285
- •
- Disease or Syndrome
Inflammation of any part of the lung parenchyma.
Furrowed tongue- MedGen UID:
- 21583
- •Concept ID:
- C0040412
- •
- Anatomical Abnormality
Accentuation of the grooves on the dorsal surface of the tongue.
Erythematous oral mucosa- MedGen UID:
- 536975
- •Concept ID:
- C0240369
- •
- Finding
An erythematous lesion of the oral mucosa may result from a variety of tissue alterations, including inflammation, erythrocyte extravasation, and atrophy or reduced keratinization of the surface epithelium.
Alopecia- MedGen UID:
- 7982
- •Concept ID:
- C0002170
- •
- Finding
A noncongenital process of hair loss, which may progress to partial or complete baldness.
Nail dystrophy- MedGen UID:
- 66368
- •Concept ID:
- C0221260
- •
- Disease or Syndrome
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
Keratosis pilaris- MedGen UID:
- 82664
- •Concept ID:
- C0263383
- •
- Disease or Syndrome
An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs.
Coarse hair- MedGen UID:
- 124454
- •Concept ID:
- C0277959
- •
- Finding
Hair shafts are rough in texture.
Phrynoderma- MedGen UID:
- 83101
- •Concept ID:
- C0334013
- •
- Disease or Syndrome
A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.
Nail dysplasia- MedGen UID:
- 331737
- •Concept ID:
- C1834405
- •
- Congenital Abnormality
The presence of developmental dysplasia of the nail.
Chronic monilial nail infection- MedGen UID:
- 870245
- •Concept ID:
- C4024683
- •
- Pathologic Function
Chronic infection of the nails by Candida species.
Sparse hair- MedGen UID:
- 1790211
- •Concept ID:
- C5551005
- •
- Finding
Reduced density of hairs.
Esotropia- MedGen UID:
- 4550
- •Concept ID:
- C0014877
- •
- Disease or Syndrome
A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.
Nystagmus- MedGen UID:
- 45166
- •Concept ID:
- C0028738
- •
- Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Corneal neovascularization- MedGen UID:
- 43103
- •Concept ID:
- C0085109
- •
- Disease or Syndrome
Ingrowth of new blood vessels into the cornea.
Cataract- MedGen UID:
- 39462
- •Concept ID:
- C0086543
- •
- Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Epiphora- MedGen UID:
- 57518
- •Concept ID:
- C0152227
- •
- Disease or Syndrome
Abnormally increased lacrimation, that is, excessive tearing (watering eye).
Opacification of the corneal stroma- MedGen UID:
- 602191
- •Concept ID:
- C0423250
- •
- Finding
Reduced transparency of the stroma of cornea.
Blindness- MedGen UID:
- 99138
- •Concept ID:
- C0456909
- •
- Disease or Syndrome
Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.
- Abnormality of head or neck
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Ear malformation