From HPO
Retinal arteriolar constriction- MedGen UID:
- 853673
- •Concept ID:
- C2176208
- •
- Finding
Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina.
Peripheral arterial stenosis- MedGen UID:
- 870815
- •Concept ID:
- C4025272
- •
- Disease or Syndrome
Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication.
Bilateral sensorineural hearing impairment- MedGen UID:
- 96788
- •Concept ID:
- C0452138
- •
- Disease or Syndrome
A bilateral form of sensorineural hearing impairment.
Progressive hearing impairment- MedGen UID:
- 331224
- •Concept ID:
- C1842138
- •
- Finding
A progressive form of hearing impairment.
Headache- MedGen UID:
- 9149
- •Concept ID:
- C0018681
- •
- Sign or Symptom
Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.
Polyneuropathy- MedGen UID:
- 57502
- •Concept ID:
- C0152025
- •
- Disease or Syndrome
A generalized disorder of peripheral nerves.
Increased CSF protein concentration- MedGen UID:
- 329971
- •Concept ID:
- C1806780
- •
- Finding
Increased concentration of protein in the cerebrospinal fluid.
Skin rash- MedGen UID:
- 1830322
- •Concept ID:
- C5779628
- •
- Sign or Symptom
A red eruption of the skin.
Concave nasal ridge- MedGen UID:
- 78105
- •Concept ID:
- C0264169
- •
- Finding
Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip.
Optic papillitis- MedGen UID:
- 10565
- •Concept ID:
- C0030353
- •
- Finding
Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure.
- Abnormality of head or neck
- Abnormality of the cardiovascular system
- Abnormality of the eye
- Abnormality of the immune system
- Abnormality of the nervous system
- Ear malformation