From HPO
Dysphagia- MedGen UID:
- 41440
- •Concept ID:
- C0011168
- •
- Disease or Syndrome
Difficulty in swallowing.
Cerebral palsy- MedGen UID:
- 854
- •Concept ID:
- C0007789
- •
- Disease or Syndrome
Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems.
Chorea- MedGen UID:
- 3420
- •Concept ID:
- C0008489
- •
- Disease or Syndrome
Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.
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.
Dyskinesia- MedGen UID:
- 8514
- •Concept ID:
- C0013384
- •
- Disease or Syndrome
A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.
Spasticity- MedGen UID:
- 7753
- •Concept ID:
- C0026838
- •
- Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Babinski sign- MedGen UID:
- 19708
- •Concept ID:
- C0034935
- •
- Finding
Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
Tremor- MedGen UID:
- 21635
- •Concept ID:
- C0040822
- •
- Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Hyperreflexia- MedGen UID:
- 57738
- •Concept ID:
- C0151889
- •
- Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Action tremor- MedGen UID:
- 65875
- •Concept ID:
- C0234376
- •
- Sign or Symptom
A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.
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.
Scanning speech- MedGen UID:
- 116113
- •Concept ID:
- C0240952
- •
- Mental or Behavioral Dysfunction
An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly.
Truncal ataxia- MedGen UID:
- 96535
- •Concept ID:
- C0427190
- •
- Sign or Symptom
Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.
Gait disturbance- MedGen UID:
- 107895
- •Concept ID:
- C0575081
- •
- Finding
The term gait disturbance can refer to any disruption of the ability to walk.
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.
Cerebellar vermis atrophy- MedGen UID:
- 149271
- •Concept ID:
- C0742028
- •
- Disease or Syndrome
Wasting (atrophy) of the vermis of cerebellum.
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.
Broad-based gait- MedGen UID:
- 167799
- •Concept ID:
- C0856863
- •
- Finding
An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.
Limb dysmetria- MedGen UID:
- 340244
- •Concept ID:
- C1854489
- •
- Finding
A type of dysmetria involving the limbs.
Impaired tandem gait- MedGen UID:
- 476998
- •Concept ID:
- C3275367
- •
- Finding
Reduced ability to walk in a straight line while placing the feet heel to toe.
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Neurodevelopmental delay- MedGen UID:
- 868344
- •Concept ID:
- C4022738
- •
- Finding
Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems.
Cerebellar cortical atrophy- MedGen UID:
- 870270
- •Concept ID:
- C4024710
- •
- Disease or Syndrome
Atrophy (wasting) of the cerebellar cortex.
Intention tremor- MedGen UID:
- 1642960
- •Concept ID:
- C4551520
- •
- Sign or Symptom
A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).
Nystagmus- MedGen UID:
- 45166
- •Concept ID:
- C0028738
- •
- Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Hypometric saccades- MedGen UID:
- 98065
- •Concept ID:
- C0423082
- •
- Finding
Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.
Hypermetric saccades- MedGen UID:
- 140835
- •Concept ID:
- C0423083
- •
- Finding
A saccade that overshoots the target with the dynamic saccade.
Dysmetric saccades- MedGen UID:
- 322908
- •Concept ID:
- C1836392
- •
- Finding
The controller signal for saccadic eye movements has two components
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.
Gaze-evoked horizontal nystagmus- MedGen UID:
- 377895
- •Concept ID:
- C1853394
- •
- Finding
Horizontal nystagmus made apparent by looking to the right or to the left.
Gaze-evoked nystagmus- MedGen UID:
- 1808161
- •Concept ID:
- C5574666
- •
- Disease or Syndrome
Nystagmus made apparent by looking to the right or to the left.
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the nervous system