From HPO
Pes cavus- MedGen UID:
- 675590
- •Concept ID:
- C0728829
- •
- Congenital Abnormality
The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight.
Abnormal vestibulo-ocular reflex- MedGen UID:
- 867213
- •Concept ID:
- C4021571
- •
- Anatomical Abnormality
An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude.
Depression- MedGen UID:
- 4229
- •Concept ID:
- C0011581
- •
- Mental or Behavioral Dysfunction
Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior.
Dysarthria- MedGen UID:
- 8510
- •Concept ID:
- C0013362
- •
- Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Orofacial dyskinesia- MedGen UID:
- 57747
- •Concept ID:
- C0152115
- •
- Disease or Syndrome
Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions.
Postural tremor- MedGen UID:
- 66696
- •Concept ID:
- C0234378
- •
- Sign or Symptom
A type of tremors that is triggered by holding a limb in a fixed position.
Cerebellar atrophy- MedGen UID:
- 196624
- •Concept ID:
- C0740279
- •
- Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Limb ataxia- MedGen UID:
- 196692
- •Concept ID:
- C0750937
- •
- Finding
A kind of ataxia that affects movements of the extremities.
Gait ataxia- MedGen UID:
- 155642
- •Concept ID:
- C0751837
- •
- Sign or Symptom
A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.
Impaired vibratory sensation- MedGen UID:
- 220959
- •Concept ID:
- C1295585
- •
- Finding
A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.
Strabismus- MedGen UID:
- 21337
- •Concept ID:
- C0038379
- •
- Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Gaze-evoked nystagmus- MedGen UID:
- 75750
- •Concept ID:
- C0271390
- •
- Disease or Syndrome
Nystagmus made apparent by looking to the right or to the left.
Upbeat nystagmus- MedGen UID:
- 107943
- •Concept ID:
- C0585545
- •
- Finding
In primary position, the eyes drift slowly downward and then spontaneously beat upward. Upward gaze accentuates the nystagmus. The associated oscillopsias are often very irritating, but the symptoms are usually transient.
Impaired smooth pursuit- MedGen UID:
- 325176
- •Concept ID:
- C1837458
- •
- Finding
An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.
Absent smooth pursuit- MedGen UID:
- 870481
- •Concept ID:
- C4024928
- •
- Finding
A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.
- Abnormality of limbs
- Abnormality of the ear
- Abnormality of the eye
- Abnormality of the nervous system