From HPO
Patent ductus arteriosus- MedGen UID:
- 4415
- •Concept ID:
- C0013274
- •
- Congenital Abnormality
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Comedonal acne- MedGen UID:
- 590448
- •Concept ID:
- C0406481
- •
- Disease or Syndrome
A type of acne in which open and closed comedones comprise the majority of the lesions, with substantially fewer papules and pustules.
Decreased retinol-binding protein level- MedGen UID:
- 1388725
- •Concept ID:
- C4476920
- •
- Finding
A reduced blood concentration of retinol-binding protein. This finding predicts vitamin A deficiency with high sensitivity and specificity.
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.
Night blindness- MedGen UID:
- 10349
- •Concept ID:
- C0028077
- •
- Disease or Syndrome
Inability to see well at night or in poor light.
Blue color blindness- MedGen UID:
- 57827
- •Concept ID:
- C0155017
- •
- Disease or Syndrome
Tritanopia is an autosomal dominant disorder of human vision characterized by a selective deficiency of blue spectral sensitivity (Weitz et al., 1992).
Reduced visual acuity- MedGen UID:
- 65889
- •Concept ID:
- C0234632
- •
- Finding
Diminished clarity of vision.
Iris coloboma- MedGen UID:
- 116097
- •Concept ID:
- C0240063
- •
- Anatomical Abnormality
A coloboma of the iris.
Microcornea- MedGen UID:
- 78610
- •Concept ID:
- C0266544
- •
- Congenital Abnormality
A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.
Absent foveal reflex- MedGen UID:
- 602333
- •Concept ID:
- C0423420
- •
- Finding
Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope.
Retinal dystrophy- MedGen UID:
- 208903
- •Concept ID:
- C0854723
- •
- Finding
Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.
Peripheral retinal atrophy- MedGen UID:
- 765930
- •Concept ID:
- C3553016
- •
- Finding
Visual impairment- MedGen UID:
- 777085
- •Concept ID:
- C3665347
- •
- Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the eye
- Abnormality of the immune system
- Abnormality of the integument