From HPO
Abnormality of the dentition- MedGen UID:
- 78084
- •Concept ID:
- C0262444
- •
- Finding
Any abnormality of the teeth.
Sparse scalp hair- MedGen UID:
- 346499
- •Concept ID:
- C1857042
- •
- Finding
Decreased number of hairs per unit area of skin of the scalp.
Pili torti- MedGen UID:
- 82670
- •Concept ID:
- C0263491
- •
- Finding
Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope.
Abnormality of the nail- MedGen UID:
- 163115
- •Concept ID:
- C0853087
- •
- Anatomical Abnormality
Abnormality of the nail.
Reduced terminal:vellus ratio- MedGen UID:
- 1706135
- •Concept ID:
- C5139385
- •
- Finding
A terminal:vellus ratio under 4:1 is characteristic of androgenetic alopecia.
Sparse hair- MedGen UID:
- 1790211
- •Concept ID:
- C5551005
- •
- Finding
Reduced density of hairs.
Macular degeneration- MedGen UID:
- 7434
- •Concept ID:
- C0024437
- •
- Disease or Syndrome
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.
Reduced visual acuity- MedGen UID:
- 65889
- •Concept ID:
- C0234632
- •
- Finding
Diminished clarity of vision.
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.
Choriocapillaris atrophy- MedGen UID:
- 477389
- •Concept ID:
- C3275758
- •
- Finding
Atrophy of the capillary lamina of choroid.
Subretinal deposits- MedGen UID:
- 1613321
- •Concept ID:
- C4531024
- •
- Finding
Deposits accumulating between the outer retina and the retinal pigment epithelium.
- Abnormality of head or neck
- Abnormality of the eye
- Abnormality of the integument