From HPO
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.
Hoffmann sign- MedGen UID:
- 78828
- •Concept ID:
- C0277839
- •
- Sign or Symptom
A Hoffmann test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test.
Increased CSF protein concentration- MedGen UID:
- 329971
- •Concept ID:
- C1806780
- •
- Finding
Increased concentration of protein in the cerebrospinal fluid.
Brisk reflexes- MedGen UID:
- 382164
- •Concept ID:
- C2673700
- •
- Finding
Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.
Elevated circulating alanine aminotransferase concentration- MedGen UID:
- 57740
- •Concept ID:
- C0151905
- •
- Finding
An abnormally high concentration in the circulation of alanine aminotransferase (ALT).
Hypervalinemia- MedGen UID:
- 120652
- •Concept ID:
- C0268573
- •
- Disease or Syndrome
Valinemia is an inborn error of metabolism characterized clinically by vomiting, feeding difficulties, hypotonia, and developmental delay, and biochemically by high concentrations of valine in serum and urine (Wada, 1965).
Hyperleucinemia- MedGen UID:
- 451032
- •Concept ID:
- C0268576
- •
- Disease or Syndrome
An increased concentration of leucine in the blood.
Hyperisoleucinemia- MedGen UID:
- 869234
- •Concept ID:
- C4023657
- •
- Disease or Syndrome
An increased concentration of isoleucine in the blood.
- Abnormality of metabolism/homeostasis
- Abnormality of the nervous system