From HPO
Tracheobronchial leiomyomatosis- MedGen UID:
- 813116
- •Concept ID:
- C3806786
- •
- Finding
Diffuse leiomyomatosis- MedGen UID:
- 870536
- •Concept ID:
- C4024984
- •
- Neoplastic Process
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).
Kidney disorder- MedGen UID:
- 9635
- •Concept ID:
- C0022658
- •
- Disease or Syndrome
A nonspecific term referring to disease or damage of the kidneys.
Proteinuria- MedGen UID:
- 10976
- •Concept ID:
- C0033687
- •
- Finding
Increased levels of protein in the urine.
Abnormal renal physiology- MedGen UID:
- 508816
- •Concept ID:
- C0151746
- •
- Pathologic Function
An abnormal functionality of the kidney.
Microscopic hematuria- MedGen UID:
- 65997
- •Concept ID:
- C0239937
- •
- Finding
Microscopic hematuria detected by dipstick or microscopic examination of the urine.
Thickened glomerular basement membrane- MedGen UID:
- 488906
- •Concept ID:
- C0445347
- •
- Finding
Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney.
Renal insufficiency- MedGen UID:
- 332529
- •Concept ID:
- C1565489
- •
- Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Stage 5 chronic kidney disease- MedGen UID:
- 384526
- •Concept ID:
- C2316810
- •
- Disease or Syndrome
A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
Glomerular basement membrane lamellation- MedGen UID:
- 1787773
- •Concept ID:
- C5539416
- •
- Finding
Presence of abnormal additional layers of the basement membrane of the glomerulus.
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.
Constipation- MedGen UID:
- 1101
- •Concept ID:
- C0009806
- •
- Sign or Symptom
Infrequent or difficult evacuation of feces.
Dysphagia- MedGen UID:
- 41440
- •Concept ID:
- C0011168
- •
- Disease or Syndrome
Difficulty in swallowing.
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.
Sensorineural hearing loss disorder- MedGen UID:
- 9164
- •Concept ID:
- C0018784
- •
- Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Hearing impairment- MedGen UID:
- 235586
- •Concept ID:
- C1384666
- •
- Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
High-frequency sensorineural hearing impairment- MedGen UID:
- 867405
- •Concept ID:
- C4021775
- •
- Disease or Syndrome
A form of sensorineural hearing impairment that affects primarily the higher frequencies.
Dyspnea- MedGen UID:
- 3938
- •Concept ID:
- C0013404
- •
- Sign or Symptom
Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.
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.
Lenticonus- MedGen UID:
- 116078
- •Concept ID:
- C0239119
- •
- Congenital Abnormality
A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly.
Anterior lenticonus- MedGen UID:
- 473077
- •Concept ID:
- C0344262
- •
- Congenital Abnormality
A conical projection of the anterior surface of the lens, occurring as a developmental anomaly.
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the respiratory system
- Ear malformation
- Growth abnormality
- Neoplasm