An Epilepsy Syndrome and Seizure Type Ontology that describes the various epilepsy syndromes based on their features. The features include seizure types and EEG results that also have their own features.
C0576704
NECK
65329004
C1263846
C0751730
MS
83373005
Anton syndrome, also known as Anton's blindness and visual anosognosia, is a rare symptom of brain damage occurring in the occipital lobe. Those who have it are cortically blind, but affirm, often quite adamantly and in the face of clear evidence of their blindness, that they are capable of seeing.
C0234668
CN
4129001
This lesion is a hallmark of tertiary neurosyphillis
Pupils will NOT constrict to light but they WILL constrict with accommodation
Pupils are small at baseline and usually both involved (although degree may be asymmetrical)
C0034935
REFLEX
366575004
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.
C4707368
MS
765212008
A rare neurologic disease with characteristics of the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalmologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time.
C0003550
MS
229654003
An aphasia characterized by impairment of expressive LANGUAGE (speech, writing, signs) and relative preservation of receptive language abilities (i.e., comprehension). This condition is caused by lesions of the motor association cortex in the FRONTAL LOBE (BROCA AREA and adjacent cortical and white matter regions).
C1847609
MS
C1836527
SENSORY
C0422833
SX
267098006
C0426576
SX
C0017494
MS
36785009
A disorder of cognition characterized by the tetrad of finger agnosia, dysgraphia, dyscalculia, and right-left disorientation.
aphasia-angular_gyrus_syndrome
C0576598
REFLEX
C0239962
REFLEX
163873006
The Hoffmann's reflex test itself involves loosely holding the middle finger and flicking the fingernail downward, allowing the middle finger to flick upward reflexively. A positive response is seen when there is flexion and adduction of the thumb on the same hand. A positive Hoffmann’s reflex and finger jerks suggest hypertonia, but can occur in healthy individuals, and are not useful signs in isolation.
C0019937
CN
192915005
syndrome associated with defective sympathetic innervation to one side of the face, including the eye; clinical features include miosis, mild blepharoptosis, and hemifacial anhidrosis (decreased sweating); lesions of the brain stem, cervical spinal cord, first thoracic nerve root, apex of the lung, carotid artery, cavernous sinus, and apex of the orbit may cause this condition.
sympathetic_ophthalmoplegia; sympathetic cervical paralysis; oculosympathetic_palsy
C0338567
CN
271730003
A small reactive pupil. The miosis is caused by interruption of sympathetic tone.
C1841624
MS
C0575465
SENSORY
298692000
Laseque sign
C0576702
NECK
299950000
Lhermitte's sign (also known as Lhermitte's phenomenon also referred to as the barber chair phenomenon is the name which describes an electric shock-like sensation that occurs on flexion of the neck. This sensation radiates down the spine, often into the legs, arms, and sometimes to the trunk.
barbers_chair_sign; Lhermittes_phenomenom
C0026010
CN
204108000
C0152222
CN
37991008
A rare syndrome affecting conjugate vertical eye movement. It is often caused by a dorsal midbrain neoplasm, commonly a pinealoma, but may also be attributable to demyelinating diseases or stroke. Clinical signs include limitation of upward gaze, light-near dissociation of the pupillary response, eyelid retraction (Collier's sign) and convergence-retraction nystagmus. Clinical course is dependent on effective treatment of underlying cause.
C0277835
SENSORY
C0423549
CN
370377000
Bone conduction better than air conduction.
C0423548
CN
370378005
Air conduction better than bone conduction.
Normal Rinne test.
C0240914
C0278127
BALANCE
373676004
C0853374
BALANCE
163770001
The Romberg test is positive if the patient begins to sway when standing erect with eyes closed. In general, patients with cerebellar problems will not be able to stand with feet together even with eyes open. Swaying that begins when the patient closes their eyes suggests a problem with proprioception in the lower extremities.
Romberg sign present
C0277843
SENSORY
C0521004
CN
27472009
C0521003
31732001
C1510456
MS
69206000
Impairment in the comprehension of speech and meaning of words, both spoken and written, and of the meanings conveyed by their grammatical relationships in sentences. It is caused by lesions that primarily affect Wernicke's area, which lies in the posterior perisylvian region of the temporal lobe of the dominant hemisphere.
C0000737
SX
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen
C0558753
REFLEX
274606006
Lack of contraction of abdominal muscles in the quadrant of the abdomen that is stimulated by scraping the skin tangential to or toward the umbilicus.
C0576601
REFLEX
299852009
C0271355
CN
C1291710
MS
386782008
C0234629
VIS
23289000
An anomaly in the ability to discriminate between or recognize colors.
C0392702
SX
C4021571
C3665386
SX
7973008
Disturbance of eyesight
C0239528
CN
C0014553
SX
C0558845
REFLEX
274818004
C0558847
REFLEX
274820001
C0426959
C0437606
164042004
C0241772
REFLEX
C0578618
CN
301944006
An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye.
C0558844
REFLEX
274817009
Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella.
C0558840
C0578621
CN
301947004
C0234146
REFLEX
37280007
A finding indicating the complete absence of neurological reflexes
C0558841
C0278134
SENSORY
C0558752
REFLEX
274605005
absent_radial_reflex; absent_brachioradialis_reflex
C0278124
REFLEX
349006
C0558846
REFLEX
C0919974
MS
737585009
Poverty of behavior and speech output, lack of initiative, loss of emotional responses, psychomotor slowing, and prolonged speech latency.
C0155018
CN
C0234376
EP
30721006
A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.
intention_tremor; cerebellar_tremor
C0549122
CN
232122003
The pupil responds consensually but not directly to light--so-called positive swinging flashlight test suggesting an afferent defect in the diseased eye.
Marcus_Gunn_pupil; positive_swinging_flashlight_test
C0339662
CN
232121005
C2364111
CN
36955009
C0001807
61372001
Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself.
aggression; aggressive
C0554985
192083006
C0085631
MS
24199005
A condition in which a person is unable to relax and be still. The person may be very tense and irritable, and become easily annoyed by small things. He or she may be eager to have an argument, and be unwilling to work with caregivers to make the situation better.
C0001816
MS
42341009
Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions.
C1328618
MS
The inability to recognize letters or numbers traced on the palm of the hand despite adequate sensation.
C0001825
MS
27206009
C0392156
EP
285145004
A disorder characterized by an uncomfortable feeling of inner restlessness and inability to stay still; this is a side effect of some psychotropic drugs.
motor_restlessness
C0001889
MS
53333005
A syndrome characterized by a silent and inert state without voluntary motor activity despite preserved sensorimotor pathways and vigilance. Bilateral frontal lobe dysfunction involving the anterior cingulate gyrus and related brain injuries are associated with this condition. This may result in impaired abilities to communicate and initiate motor activities.
coma_vigil
C0002018
MS
9236007
An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read.
dyslexia
C0458247
SENSORY
247404004
Allodynia is the elicitation of pain by stimuli that are normally not painful.
painful_response_to_non_painful_stimulus
C0150450
SX
C0271205
VIS
246669008
C0422991
VIS
246662004
C0149793
SX
88032003
A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition
C0002453
SX
absence of menses for three months or more.
C0002622
MS
48167000
Systematic and extensive loss of memory caused by organic or psychological factors. The loss may be temporary or permanent, and may involve old or recent memories.
memory_loss
C0234497
MS
26610007
C0576612
REFLEX
299863007
C0751471
REFLEX
299865000
C0234517
MS
48257004
Pure anarthria is a rare disorder commonly defined as a total inability to articulate speech in the absence of any deficit both of auditory comprehension and of written language. It can follow either cortical, subcortical, or brain stem lesions. Anarthria should be kept separate from mutism (inability or unwillingness to speak in the absence of any brain lesion capable of affect the articulatory planning), as well as from dysarthria (a speech disorder due to weakness or incoordination of speech muscles).
C0003079
CN
13045009
Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease.
unequal_pupils
C0238651
REFLEX
39055007
Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.
C0003113
MS
10325006
A language dysfunction characterized by the inability to name people and objects that are correctly perceived.
C2228041
MS
10325006
C0003123
SX
79890006
clinical manifestation consisting of a physiopathological lack or loss of appetite accompanied by an aversion to food and the inability to eat.
C0003126
CN
44169009
An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.
loss_of_smell
C0234507
MS
20930002
A condition in which a person who suffers illness or disability seems unaware of or denies the existence of the illness or disabilit
Denial_of_illness
C0231685
GAIT
67141003
C0085632
MS
20602000
Lack of emotion or emotional expression; a disorder of motivation that persists over time.
listless
C0003537
MS
87486003
Cognitive disorder marked by an impaired ability to comprehend or express language in its written or spoken form; caused by diseases which affect the language areas of the dominant hemisphere; general categories include receptive, expressive, and mixed forms of aphasia
dysphasia
C1291740
MS
106169008
C0750937
COOR
Ataxia that affects primarily the limbs and can be elicited by the finger-to-nose test or heel-knee-shin test or rapid alternating movements.
limb_ataxia
C0003635
MS
68345001
loss of ability to perform familiar, purposeful movements in the absence of paralysis or other neural sensorimotor impairment.
C4228025
REFLEX
37280007
C1856694
REFLEX
C2674177
REFLEX
C0239377
SX
C0424233
EP
C0003862
SX
C0004090
MS
71802006
C2830446
MS
25094008
C0232766
EP
32838008
A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints.
flapping_tremor; liver_flap
C3842129
CN
C0004134
COOR
20262006
Ataxia is the presence of uncoordinated, imprecise, and inaccurate movements. Ataxia is the cardinal sign of cerebellar disease.
dyssynergia; dystaxia
C0454599
MS
229687004
cerebellar_dysarthria
C0751837
GAIT
25136009
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.
C0585568
307700006
CN
C0004158
EP
58593005
A movement disorder consisting of slow, involuntary, and nonpurposeful writhing movements that usually affect the upper limbs.
C1864717
ATROPHY
C3808485
C4522293
MS
C0233762
SX
45150006
Perception of sound in the absence of a corresponding stimulus.
C0750942
MS
D0000009
D0000001
D0000328
D0000003
D0000347
D0000346
D0000004
D0000340
D0000005
D0000301
D0000341
D0000344
D0000345
D0000007
D0000302
D0000343
D0000303
D0000011
D0000012
D0000013
D0000014
D0000304
D0000016
D0000017
D0000305
D0000339
D0000019
D0000020
AURA
D0000021
AURA
D0000022
D0000342
D0000023
D0000349
D0000348
D0000024
C1846135
MS
C0004377
SX
52669001
Automatic, mechanical, and apparently undirected behavior which is outside of conscious control.
C0234511
MS
24500009
body_image_agnosia
C0004604
SX
C0575082
BALANCE
298304004
C0004941
SX
An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.
C0694544
NECK
C0422917
REFLEX
246588005
C0574118
CN
C3807697
WEAK
15638171000119103
C2196583
C0018775
CN
95820000
C4036173
VIS
C2315695
430977001
C2033345
15930381000119104
C1865916
CN
C2196964
MOTOR
C0452138
C2881291
CN
C0271208
VIS
87278000
C0005586
MS
C0221184
VIS
61917005
C2930898
MOTOR
59026006
C0271240
VIS
22950006
unilateral_blindness
C0456909
VIS
193699007
Inability to see or the loss or absence of perception of visual stimuli; condition may be the result of eye, optic nerve, optic chiasm or brain diseases effecting the visual pathways or occipital lobe.
C1879328
C0576562
CN
299813002
C1860473
C0278232
72436007
C0344232
SX
246636008
A disorder characterized by visual perception of unclear or fuzzy images.
C0233565
EP
399317006
Abnormal slowness of movement, which is often a symptom of neurological disorders, particularly Parkinson's disease.
C0576629
REFLEX
299880006
C0576582
REFLEX
299833003
C0576595
REFLEX
299846008
C0576553
REFLEX
299805003
To elicit the jaw jerk, the examiner places an index finger over the jaw or chin, holding the mouth partly open, then gently taps the examiner's finger with the reflex hammer. The the brisk jaw jerk may indicate a state of generalized hyperreflexia due to a supranuclear lesion such as stroke or ALS.
C0576623
REFLEX
299874003
C1854027
REFLEX
C2673700
REFLEX
Tendon reflexes that are noticably more active than usual (conventionally denoted 3+ on clinical examnation). 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.
C0576588
REFLEX
299839004
brisk radial reflex; brisk brachioradialis reflex
C0522227
102983008
REFLEX
C0576576
299827007
REFLEX
C0576619
REFLEX
299870007
C0234230
SX
A sensation of intensley hot or searing discomfort.
C0234655
SX
2070002
C0231710
SX
C1843057
MOTOR
C0427049
CN
249928002
Shoulder shrug is generally considered an action of the trapezius muscle, although the levator scapulae contributes to this action.
C0476270
SX
C0007280
NECK
419642000
A carotid bruit is a vascular murmur sound (bruit) heard over the carotid artery area on auscultation during systole.
C0007384
SX
transient attack of weakness precipitated by emotional excitement; patient falls as if struck down.
C0007398
MOTOR
247917007
A neuropsychiatric disorder characterized by one or more of the following essential features: immobility, mutism, negativism (active or passive refusal to follow commands), mannerisms, stereotypies, posturing, grimacing, excitement, echolalia, echopraxia, muscular rigidity, and stupor; sometimes punctuated by sudden violent outbursts, panic, or hallucinations.
C1842364
MOTOR
Reduced muscle tone secondary to an abnormality of the central nervous system
C0152191
VIS
38950008
An area of depressed vision located at the point of fixation and that interferes with central vision.
C0271196
VIS
33014001
A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape.
C0007758
COOR
85102008
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
D0000847
D0000835
D0000842
C0161442
SENSORY
C0008301
SX
C0008489
EP
271700006
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.
C0427162
GAIT
250040002
C0085583
MOTOR
43105007
Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).
C0558750
CN
274603003
The ciliospinal reflex (pupillary-skin reflex) consists of dilation of the ipsilateral pupil in response to pain applied to the neck, face, and upper trunk. If the right side of the neck is subjected to a painful stimulus, the right pupil dilates (increases in size 1-2mm from baseline). This reflex is absent in Horner's syndrome and lesions involving the cervical sympathetic fibers. The enhanced ciliospinal reflex in asymptomatic patients with cluster headache is due to preganglionic sympathetic mechanisms.
C0277820
MOTOR
2581006
C0009024
REFLEX
36649002
A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.
C0683369
MS
40917007
C0233844
SX
Movements that are imprecise or inaccurate.
clumsy
C1842201
C0338656
SX
386806002
Diminished or impaired mental and/or intellectual function
C1392787
SX
Symptoms related to cognitive behavior such as language, memory, reasoning, abstract thought, and visual spatial manipulations.
C0151564
MOTOR
55630000
A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched).
C0344329
271787007
C0392748
SX
C0152200
CN
56852002
Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray.
achromatopsia
C0009421
MS
371632003
A profound state of unconsciousness associated with depressed cerebral activity from which the individual cannot be aroused. Coma generally occurs when there is dysfunction or injury involving both cerebral hemispheres or the brain stem reticular formation.
comatose
C0018784
C0581883
C0149958
SX
4103001
A type of focal-onset saeizure characterized by impaired awareness. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile. If awareness is impaired at any point during the seizure, the seizure is a focal impaired awareness seizure. The degree of loss of awareness may vary.
C0233744
MS
112089001
An inability to comprehend emotion as conveyed by the prosody of speech.
C4478437
C0234471
MS
89410007
A type of fluent aphasia characterized by an impaired ability to repeat one and two word phrases, despite retained comprehension. This condition is associated with dominant hemisphere lesions involving the arcuate fasciculus (a white matter projection between Broca's and Wernicke's areas) and adjacent structures. Like patients with Wernicke aphasia (APHASIA, WERNICKE), patients with conduction aphasia are fluent but commit paraphasic errors during attempts at written and oral forms of communication.
C0233800
MS
17842005
Giving untruthful answers to questions about situations or events that are not recalled due to loss of memory. Confabulation is not a conscious attempt to deceive.
C0009676
SX
286933003
A mental state characterized by bewilderment, emotional disturbance, lack of clear thinking, and perceptual disorientation
confusional_state; dazed; muddled; clouded_consciousness
C0009812
SX
A group of symptoms that affect an individual's general well being. Representative examples include fever, chills, fatigue, weakness, and weight loss.
C0009806
SX
C0235095
VIS
267628004
An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye. Narrowed or reduced visual field.
reduced_visual_field; narrowed_visual_field
C2243023
MS
76251002
Constructional apraxia is characterized by an inability or difficulty to build, assemble, or draw objects. Apraxia is a neurological disorder in which people are unable to perform tasks or movements even though they understand the task, are willing to complete it, and have the physical ability to perform the movements. Constructional apraxia may be caused by lesions in the parietal lobe following stroke or it may serve as an indicator for Alzheimer's disease.
C2939429
CN
373590007
C0009946
MS
20734000
hysteria
C0575091
COOR
298314008
Coordination is the ability to perform complex movements precisely and accurately.
C0233729
MS
Involuntary and repetitive utterances of obscene or socially inappropriate words or statements.
C0278211
78710008
The corneal reflex is elicited by touching the cornea with a wisp of cotton or tissue. The afferent loop is ove V1 of the trigeminal nerve and the efferent loop is over the facial nerve.
C0155320
VIS
68574006
A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.
C0010200
SX
C0152180
CN
84759007
The major part of the spinal accessory nerve (11th cranial nerve) innervates the trapezius muscle and the sternocleidomastoid muscle. Weakness of these muscles maybe supranuclear, nuclear, or infranuclear in origin. A special visceral efferent branch to the vagus nerve is not tested clinically.
Acessory_nerve_disorder
C0234338
CN
106162004
The twelfth cranial nerve is purely motor and supplies the tongue.
twelfth_cranial_nerve_finding; hypoglossal_nerve_finding
C0751937
CN
68982002
Diseases of the first cranial (olfactory) nerve, which usually feature anosmia or other alterations in the sense of smell and taste.
olfactory_nerve_disorder; first_cranial_nerve_finding; cranial_nerve_I_finding
C0042790
CN
128127008
visual_system_disorder
C0234274
CN
106155008
trigeminal_nerve_finding
C0234289
CN
106157000
Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation.
facial_nerve_finding
C0001163
CN
77949003
Pathological processes of the vestibulocochlear nerve, including the branches of cochlear and vestibular nerve. Common examples are vestibular neuritis, cochlear neuritis, and acoustic neuroma. Clinical signs are varying degree of hearing loss, vertigo, and tinnitus.
acoustico-vestibular_nerve_disorders
C0234324
CN
106160007
vagal_nerve_finding
C1291734
CN
106150003
Deficits that arise from dysfunction of one of the twelve cranial nerves.
C1287863
CN
366342008
C0018674
SX
C0558754
REFLEX
274607002
C0278132
REFLEX
29922007
Superficial reflexes are motor responses to scraping of the skin. They are graded simply as present or absent, although markedly asymmetrical responses should be considered abnormal as well. These reflexes are quite different from the muscle stretch reflexes in that the sensory signal has to not only reach the spinal cord, but also must ascend the cord to reach the brain. The motor limb then has to descend the spinal cord to reach the motor neurons. As can be seen from the description, this is a polysynaptic reflex. This can be abolished by severe lower motor neuron damage or destruction of the sensory pathways from the skin that is stimulated. However, the utility of superficial reflexes is that they are decreased or abolished by conditions that interrupt the pathways between the brain and spinal cord (such as with spinal cord damage).
C0541854
SX
C0011053
CN
15188001
lack or significant deficiency of the sense of hearing.
C0231474
MOTOR
23073007
decerebration
C0231475
MOTOR
85157005
decortication
C0151303
REFLEX
C0751473
REFLEX
299878000
decreased_Achilles_reflex; decreased_ankle_jerk
C2938985
EP
C0751475
REFLEX
299831001
C0238777
EP
C0151572
103254005
An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids.
C4024874
CN
ipsilatera_absence_of_facial_sweating
C0751476
CN
5799008
C4313189
C0751478
REFLEX
299872004
decreased_patellar_reflex; decreased_knee_jerk, decreased_quadriceps_reflex
C0011124
SX
C1834696
REFLEX
C4313615
163740006
C2016557
C2016481
SENSORY
C2016530
SENSORY
C2164410
SENSORY
C2016460
SENSORY
C2016512
SENSORY
C2016445
SENSORY
C2016464
SENSORY
C2016451
SENSORY
C2016455
SENSORY
C2016456
SENSORY
C2016457
SENSORY
C2164411
C2016472
CN
C2016480
C2016491
SENSORY
C2016495
SENSORY
C2016499
SENSORY
C2016503
C2016471
SENSORY
C2164412
C2016508
C2016482
SENSORY
C2016518
SENSORY
C2016522
SENSORY
C2016564
C2016559
SENSORY
C2164413
C2016570
SENSORY
C2016483
SENSORY
C2016574
SENSORY
C2016516
SENSORY
C2016526
SENSORY
C1837522
SENSORY
C1832123
SENSORY
C2678339
C0576586
REFLEX
299837002
decreased_radial-reflex
C2164434
SENSORY
decreased_touch
C2039796
SENSORY
C2039795
SENSORY
C2164435
SENSORY
decreased_touch_on_arm
C2039775
SENSORY
C2039787
SENSORY
C2039788
SENSORY
C2039791
SENSORY
C2039812
SENSORY
C2164436
decreased_touch_on_hand
C2054039
SENSORY
C2054043
SENSORY
C2054045
SENSORY
C2728289
SENSORY
C2164440
SENSORY
decreased_touch_on_leg_or_foot
C2054064
SENSORY
C2728294
SENSORY
C2039817
SENSORY
C2054068
SENSORY
C2054071
SENSORY
decreased_touch_on_neck
C2054075
SENSORY
C2054076
SENSORY
C2054077
SENSORY
C2039816
SENSORY
C2728299
SENSORY
C2164444
SENSORY
decreased_touch_on_sole_of_foot
C2054112
SENSORY
C2054116
SENSORY
C2054120
SENSORY
C2039818
SENSORY
C2054121
SENSORY
C0700078
REFLEX
405946002
C1837521
SENSORY
C0751481
REFLEX
299825004
C1837373
REFLEX
C3277802
SENSORY
C2189582
C2189587
SENSORY
C2189590
C1295585
130980003
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.
C0595983
CN
C0751609
C0011194
SX
C0023012
MS
delayed_language_acquisition
C0034012
SX
Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty
C0011253
MS
2073000
A false belief regarding the self or persons or objects outside the self that persists despite the facts, and is not considered tenable by one's associates.
C0497327
MS
52448006
A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
C1274803
CN
403451002
Atrophy of the tongue is manifested by a loss of bulk on the affected side. With advanced atrophy, the tongue is furrowed, wrinkled, and obviously smaller on the affected side.
C0344315
C0424605
C1836830
SX
609225004
Loss of developmental skills, as manifested by loss of developmental milestones.
C0426994
CN
249884003
C0555088
SX
difficulty getting up
C0239043
SX
An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing
C0239067
SX
C0562455
MS
284511008
A slowness in initiating movements generally suggests a frontal lobe lesion damaging circuits involved in movement initiation.
C1527347
SX
C0563385
CN
285501007
C0555095
EP
249911000
C0311394
SX
228158008
Reduced ability to walk (ambulate).
trouble walking
C0584995
MS
102938007
C0221165
WEAK
6481005
Paralysis affecting corresponding parts on both sides of the body.
bilateral_paralysis
C4302036
WEAK
723157009
paralysis_of_both_arms; unable_to_move_both_arms
C0012569
SX
24982008
Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.
seeeing_double; double_vision
C0474398
MS
247973004
C0015423
CN
60113004
C1855263
MS
736319003
C0233407
MS
62476001
disoriented
C0278062
MS
39538002
C1546414
MS
C0233408
MS
C0455741
MS
62766000
C0233409
MS
72440003
Impaired awareness of place
place_disorientation
C4062229
MS
19657006
C0349245
MS
191714002
hysterical_seizures
C0349742
191713008
hysterical_tremor
C1850396
ATROPHY
C0427065
WEAK
249942005
Reduced strength of the musculature of the distal extremities
C1837343
WEAK
C1847584
SENSORY
An abnormal reduction in sensation in the distal portions of the extremities.
C1834857
SENSORY
C0233415
MS
28102002
C0234428
3006004
C0012833
SX
C0585544
CN
307676006
Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone.
C0234529
MS
179005
Dressing apraxia is a syndrome of the right (incorrectly defined as minor) hemisphere, indicating the incapacity of effectuating the acts of dressing correctly (for example passing the head in the sleeve or dressing trousers at the inverse etc…). However this difficulty should not be explained by a primary motor or sensory deficit or by a general attention failure (as it can be observed in patients with dementia, delirium or with a severe frontal syndrome). Interestingly, several cases reports of patients with pure dressing apraxia have been published, without the evidence of the co-presence of other forms of apraxia or other significant deficits in other cognitive spheres.
C0423131
CN
C0259813
SX
C0013144
MS
271782001
The sensation of struggling to remain awake.
C0436584
MS
162704004
C0029128
CN
33629003
Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve.
C0239885
SX
C0013362
MS
8011004
imperfect speech articulation due to disturbances of muscular control.
C0869474
MS
55640002
acalculia
C1845274
CN
C0522335
CN
103263007
C0234979
COOR
23133003
Dysdiadochokinesia is the inability to rapidly perform alternating movements such as having a subject pronating and supinating their hands.
dysdiadochokokinesia: impaired_rapid_alternating_movements
C0392699
SENSORY
279079003
Abnormal sensations with no apparent physical cause that are painful or unpleasant.
C0013384
EP
9748009
a disease characterized by abnormal involuntary movements of muscles
C0234162
COOR
32566006
A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.
C0422859
SX
C0424503
HEAD
C0011168
CN
40739000
A disorder characterized by difficulty in swallowing.
C0973461
MS
20301004
C0854737
MS
A speech disorder in which the melody and rhythm of speeech fails to correctly convey the intended emotion of the speaker.
C0013421
MOTOR
15802004
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
C4016919
MOTOR
C0393593
EP
15802004
syndrome dominated by involuntary, sustained or spasmodic, patterned, and repetitive muscle contractions; frequently causing twisting, flexing or extending, and squeezing movements or abnormal postures.
C0426961
EP
249847000
C0013456
SX
C0013528
MS
64712007
The tendency to repeat vocalizations made by another person.
echo_speech
C0549248
SX
C0085584
MS
81308009
Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.
C0271390
CN
29356006
Nystagmus made apparent by looking to the right or to the left.
gaze_evoked_nystagmus
C2216346
SX
C0152192
VIS
33970004
C0152227
SX
418035005
excessive tearing; watery eyes
C0422918
REFLEX
246589002
C0270736
EP
C0917814
MS
229665008
C3714730
REFLEX
C0576640
REFLEX
299891004
C0576641
REFLEX
299892006
C1842657
MOTOR
C0239325
MOTOR
C0015347
MS
71778000
C3481646
MS
22058002
C0239427
CN
C0028850
CN
45030009
pathologic process affecting the voluntary or reflex-controlled movements of the eye.
C0151827
SX
C0005745
CN
11934000
Drooping of the upper lid due to deficient development or paralysis of the levator palpebrae muscle.
C0015468
SX
C1836003
CN
bilateral_facial_weakness
C1395979
MOTOR
C0270871
EP
1070000
Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
C0239511
309557009
Loss of sensation to temperature, pin prick, or touch on the face.
C0751142
CN
C0015469
CN
280816001
Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve).
C0427055
CN
95666008
Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
facial_weakness; facial_droop
C0239517
symptoms
95665007
C2237377
CN
C2237381
CN
C2237384
CN
C0338467
MOTOR
230335009
C0427057
CN
249933003
Facial weakness due to a lesion of the facial nerve or the facial nerve nucleus. In general, both upper and lower face are equally affected.
C0427058
CN
249934009
Facial weakness due to lesion above the facial nerve nucleus. Supranuclear lesions generally cause facial weakness that is worse in the lower face than the upper face due to bilateral supranculear control of the upper face.
C0085639
BALANCE
161898004
A sudden movement downward, usually resulting in injury
C0393615
EP
C0015644
MOTOR
82470000
Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.
muscle_fasciculation
C0239548
CN
249878001
C0015672
SX
84229001
state of weariness following a period of exertion, mental or physical, characterized by a decreased capacity for work and reduced efficiency to respond to stimuli.
C0015726
SX
1402001
Feeling of dread or distress whose cause can be identified
C0015732
SX
C0231694
GAIT
397776000
festination
C0015967
SX
386661006
Abnormal high body temperature
C1860864
EP
C0234373
EP
42800007
C0427186
COOR
250063007
C0234509
MS
3449007
An inability or difficulty differentiating among the fingers of either hand as well as the hands of others
C1866142
WEAK
C1847354
C0239601
EP
C0522340
CN
103271006
C0454597
MS
229685007
lower_motor_neuron_type_dysarthria; bulbar_type_dysarthria
C2875327
C0026825
MOTOR
397488002
Lack of normal muscle tone.
flaccidity; flaccid_tone; flaccid_muscle_tone
C0452143
192966000
C0233471
MS
932006
C0233657
MS
28810003
Rapid succession of thoughts pertaining to different subjects that are still connected.
C0427094
SX
C1866141
WEAK
C0085684
WEAK
6077001
Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.
C0427149
GAIT
27253007
An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.
C0542476
55533009
An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.
C0860515
GAIT
443544006
Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk
C0234784
5258001
C1510417
GAIT
30767006
Impaired ambulation not attributed to sensory impairment or motor weakness. The impairment is thought to be due to disorganization of high level motor programs for walking.
C0575081
C0575079
GAIT
298302000
C1112261
CN
C0231519
MOTOR
24033006
paratonia
C0427108
SX
271713000
C1858120
MOTOR
C2010782
MOTOR
C0234533
SX
C0746674
WEAK
Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.
C0424015
SX
247664009
A form of disorientation where the person loses their way and is unable to get to their destination.
C1142017
REFLEX
299802000
C0234469
MS
23011003
total_aphasia
C0751941
CN
80962007
Diseases of the ninth cranial (glossopharyngeal) nerve or its nuclei in the medulla. The nerve may be injured by diseases affecting the lower brain stem, floor of the posterior fossa, jugular foramen, or the nerve's extracranial course. Clinical manifestations include loss of sensation from the pharynx, decreased salivation, and syncope. Glossopharyngeal neuralgia refers to a condition that features recurrent unilateral sharp pain in the tongue, angle of the jaw, external auditory meatus and throat that may be associated with SYNCOPE. Episodes may be triggered by cough, sneeze, swallowing, or pressure on the tragus of the ear.
C0277840
SENSORY
63755003
glove_anesthesia
C0576697
MS
299945006
C0234175
REFLEX
C2367679
REFLEX
C0018524
SX
7011001
subjectively experienced sensations in the absence of an appropriate stimulus, but which are regarded by the individual as real; may be of organic origin, drug induced, or associated with a mental disorder.
C2749495
MOTOR
Difficulty releasing one's grip associated with prolonged first handgrip relaxation times.
difficulty releasing handgrip
C0438698
MS
162314006
C1320354
C0018681
SX
pain in the cranial region that may occur as an isolated and benign symptom or as a manifestation of a wide variety of conditions.
C1384666
CN
103276001
A general term for the complete or partial loss of the ability to hear from one or both ears.
C3887873
SX
C0262502
CN
C0262503
CN
C0427189
COOR
250066004
C3698014
CN
697992008
C0018979
CN
77674003
Partial or complete loss of vision in one half of the visual field of one or both eyes.
C0221169
MOTOR
66637005
Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements.
C3888440
CN
A lack of sweating on one side of the face.
C0278152
EP
13753008
Recurrent clonic contraction of facial muscles, restricted to one side. It may occur as a manifestation of compressive lesions involving the seventh cranial nerve (FACIAL NERVE DISEASES), during recovery from BELL PALSY, or in association with other disorders.
C0018989
WEAK
20022000
Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.
C0018991
WEAK
50582007
Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body.
C0231696
GAIT
52751000
C2039767
SENSORY
C0234216
SENSORY
14686007
hemianesthesia
C2030490
SENSORY
C2016484
SENSORY
C2039819
SENSORY
C2189605
SENSORY
C0751418
32422007
D0000851
C0271207
VIS
344104004
C0019521
C0241703
CN
51406002
An abnormal increase in the pitch (frequency) of the voice
C3552731
C3279725
WEAK
C1561668
SX
C0019825
C0455204
225450009
C0271202
VIS
34063005
C0438977
VIS
193679001
C0751077
C0339651
CN
232115006
C0271385
CN
81756001
Nystagmus consisting of horizontal to-and-fro eye movements.
C0020039
79351003
Persistent or frequent angry feelings; anger or irritability in response to minor slights and insults.
C0424295
MS
44548000
Hyperactivity means having increased movement, impulsive actions, and a shorter attention span, and being easily distracted.
C0034880
SX
25289003
Abnormally increased perception of sound.
painful_sensitivity_to_sound; sounds_seem_unnaturally_loud
C2881989
1088941000119107
C2881988
C0020429
SENSORY
55406008
excessive sensitivity to painful stimuli.
hyperpathia
C0234166
REFLEX
C3887506
EP
44548000
Excessive movement of muscles of the body as a whole, which may be associated with organic or psychological disorders.
C3668822
COOR
450881007
Overshooting the target on rapid-alternating-movements.
C0151889
REFLEX
86854008
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
C0020534
HEAD
C0026826
MOTOR
41581000
abnormal increase in skeletal or smooth muscle tone; skeletal muscle hypertonicity may be associated with pyramidal tract lesions or basal ganglia diseases.
muscle_hypertonia
C2047656
MOTOR
C3553931
MOTOR
C0020575
CN
40608009
A type of strabismus characterized by permanent upward deviation of the visual axis of one eye.
C0020580
SENSORY
Diminished sensation in one or more modality including temperature sense, vibration sense, pain sense, light touch sense, or proprioception.
C0233773
SX
C0086439
EP
255385008
Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.
C2017999
MS
229688009
extrapyradimal_type_dysarthria
C0241934
281257007
A less severe form of mania characterized by elevated mood, hyperactivity, and grandiosity. In contrast to mania, these symptoms do not cause significant impairment of the individual's productivity at work, or social and family relationships.
C4024220
SKIN
C0234165
COOR
69752006
Undershooting the target on rapid alternating movements.
C0423082
CN
C0521007
MS
34527004
Reduced intensity (volume) of speech.
C0151888
REFLEX
22994000
Decreased but not necessarily absent deep tendon reflexes.
C2364082
CN
83156004
Decreased ability to smell.
reduced_sense_of_smell, impaired_sense_of_smell
C0026827
MOTOR
398152000
Diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.
muscle_hypotonia
C0221473
MS
88902008
hysterical_blindness
C0427177
MS
271707009
C1400338
MS
70066000
conversion_mutism
C0237766
MS
88984006
hysterical_paresis
D0000092
D0000025
D0000026
D0000844
D0000310
D0000027
D0000028
D0000029
D0000030
D0000031
D0000311
D0000032
D0000033
D0000034
D0000035
D0000036
D0000037
D0000038
D0000039
D0000040
D0000041
D0000042
D0000043
D0000044
D0000045
D0000832
D0000046
D0000047
D0000048
D0000049
D0000050
D0000051
D0000052
D0000831
D0000053
D0000054
D0000312
D0000055
D0000056
D0000057
D0000058
D0000327
D0000060
D0000061
D0000062
D0000063
D0000064
D0000065
D0000068
D0000067
D0000069
D0000070
D0000071
D0000072
D0000073
D0000074
D0000075
D0000076
D0000314
D0000078
D0000079
D0000080
D0000849
D0000081
D0000840
D0000082
D0000083
D0000084
D0000085
D0000086
D0000087
D0000088
D0000089
D0000315
D0000330
D0000091
ICTAL
D0000326
D0000094
D0000095
D0000096
D0000097
D0000099
D0000100
D0000101
D0000102
D0000103
D0000104
D0000106
D0000105
D0000850
D0000107
D0000108
D0000333
D0000109
D0000110
D0000112
D0000113
D0000114
D0000115
D0000116
D0000117
D0000318
D0000332
D0000118
D0000119
D0000120
D0000121
D0000122
D0000123
D0000124
D0000125
D0000126
D0000334
D0000127
D0000128
D0000129
D0000845
D0000319
D0000130
D0000131
D0000132
D0000133
D0000320
D0000135
D0000136
D0000137
D0000138
D0000139
D0000140
D0000329
D0000142
C0234526
MS
66397001
C0234523
MS
229706001
A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres.
C0679467
MS
424100000
C2712027
MS
704426000
C0233414
MS
76039005
C0575090
BALANCE
C0576690
C0009241
MS
443265004
Diminished or impaired mental and/or intellectual function.
C0235198
MS
60032008
C4021585
SENSORY
A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints.
C0426995
CN
249885002
C0233823
MS
12200008
lack_of_insight; defective_insight
C0576694
299942009
C0233818
MS
162327005
Judgment refers to the patient's capacity to make sound, reasoned and responsible decisions.
lack_of_judgment; loss_of_judgment
C0233794
MS
386807006
poor_memory; memory_deficit
C4061143
CN
288939007
C0920048
MS
C0561734
MS
283878007
impaired_working_memory; impaired_registration
C0238707
MS
C0919568
C0021125
286756000
C0560046
SX
282145008
Incapability to ambulate.
C0233522
SX
112082005
The definition of inappropriate is someone or something that is not within the bounds of what is considered appropriate or socially acceptable.
C0233468
MS
5240007
Using humor and joking inappropriately, usually in the setting of disinhibition due to frontal lobe injury. See also witzelsucht.
C1862946
SX
Uncontrolled episodes of crying or laughing, without apparent motivating stimuli.
C0424101
MS
22058002
C0700129
SX
284596004
Speech which is non-sensical and difficulty to understand. This term is used and generally and does not have a precise neurological definition to describe rambling non-sensical speech.
C0520966
COOR
281016006
C4083076
HEAD
C2674843
C0432666
SX
C0432668
SX
C0432667
SX
C0917801
SX
D0000331
C0152134
CN
49823009
An abnormality of conjugate lateral gaze in which the affected eye shows impairment of adduction. The pathognomonic clinical sign of internuclear ophthalmoplegia is an impaired adduction while testing horizontal saccades on the side of the lesion in the ipsilateral medial longitudinal fascicule.
INO
C4476548
WEAK
weak_intrinsic_hand_muscles
C0427086
EP
267078001
C0022107
55929007
Abnormal or excessive excitability with easily triggered anger, annoyance, or impatience.
C0155305
CN
14357004
schemic injury to the OPTIC NERVE which usually affects the OPTIC DISK (optic neuropathy, anterior ischemic) and less frequently the retrobulbar portion of the nerve (optic neuropathy, posterior ischemic). The injury results from occlusion of arterial blood supply which may result from TEMPORAL ARTERITIS; ATHEROSCLEROSIS; COLLAGEN DISEASES; EMBOLISM; DIABETES MELLITUS; and other conditions. The disease primarily occurs in the sixth decade or later and presents with the sudden onset of painless and usually severe monocular visual loss. Anterior ischemic optic neuropathy also features optic disk edema with microhemorrhages. The optic disk appears normal in posterior ischemic optic neuropathy.
C0233803
SX
C3552908
REFLEX
C0427085
SX
C0233472
MS
88729006
Instability of mood, prone to rapid changes in mood and affect.
C0566627
MS
39423001
C0423154
246849001
lack_of_lacrimation, lack_of_tears, absent_lacrimation
C0948844
SX
C0426986
CN
249876002
C0277821
MOTOR
75147004
C0751265
C0694542
NECK
C0576642
REFLEX
C3842072
CN
C4280873
WEAK
C0457436
WEAK
278287000
C0457434
278285008
C0271204
55634009
C2126062
CN
Bulging forward of the left eye.
left_exophthalmos
C2168110
SX
C0857160
C0023222
SX
C0427188
COOR
C0023380
MS
214264003
C0751093
MOTOR
A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.
C1854657
MOTOR
Fasciculations affecting the musculature of the arms and legs.
C0858572
MOTOR
C0235081
C2678242
MOTOR
C0587246
WEAK
713514005
C0522328
CN
419326002
C0234490
MS
23869008
C0023944
38023001
C0427084
SX
249961009
C0278126
BALANCE
89419008
A loss of equilibrium is defined by an inability to stand upright.
disequilibrium
C4544271
MS
736317001
impaired_executive_functions
C1852476
EP
C2364087
MS
276306002
C2749793
SENSORY
C4021222
SENSORY
C0024031
SX
C0751410
C0427056
CN
249932008
C2677696
C1836696
REFLEX
C0574718
C1271100
MOTOR
394679006
C0161444
SENSORY
C0221355
C0231218
SX
A nonspecific feeling of bodily discomfort, fatigue and/or unease.
C0338831
MS
231494001
A disorder characterized by excitement of psychotic proportions manifested by mental and physical hyperactivity, disorganization of behavior and elevation of mood.
C0427169
GAIT
250049001
C0424448
EP
103606006
masked_facies: lack_of_facial_expression; poverty_of_facial_expression
C0557932
SX
225038006
Temporary intermittent failures of memory.
C0025287
NECK
70784009
Meningism is a set of symptoms similar to those of meningitis but not caused by meningitis. Whereas meningitis is inflammation of the meninges (membranes that cover the central nervous system), meningism is caused by nonmeningitic irritation of the meninges, usually associated with acute febrile illness,especially in children and adolescents
C1562941
MS
416578004
C0025362
MS
91138005
Subnormal intellectual functioning which originates during the developmental period; multiple potential etiologies, including genetic defects and perinatal insults; intelligence quotient (IQ) scores are commonly used to determine whether an individual is mentally retarded; IQ scores between 70 and 79 are in the borderline mentally retarded range and scores below 67 are in the retarded range.
C0278061
MS
36456004
C4546352
CN
762663009
Classical teaching has associated all lesions of the rostral midbrain with bilateral light-near dissociation (LND), defined as attenuation of the pupil light reflex (PLR) with relative sparing of the near response.
C0271185
SX
42134006
A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank.
C0025958
HEAD
C0240341
EP
725122008
Abnormally small sized handwriting defined formally as an impairment of a fine motor skill manifesting mainly as a progressive or stable reduction in amplitude during a writing task.
C0154723
SX
C3278191
COOR
Ataxia that is of mild severity. See definition of ataxia.
C3549475
MS
C1837243
CN
C0423927
MS
192071009
C3553819
EP
C3552145
COOR
C0026205
CN
63251006
miosis
constricted_pupil; miosis; abnormal_non-physiological_constriction_of_the_pupil
C0681394
SX
C0454576
MS
229662006
C0454598
MS
229686008
combined_flaccid_and_spastic_dysarthria
C0270795
WEAK
79520009
Weakness in a single limb.
C0085622
WEAK
86022000
Complete loss of movement in one limb.
C0154703
WEAK
41764006
C0154702
WEAK
80420005
C0085633
MS
18963009
labile affect
C0555358
162315007
C0233725
MS
20937004
A disorder characterized by the inability to convey emotion by using the prosody of speech.
C1291728
MOTOR
106145009
motor_nervous_system_finding
C4073148
MS
The inability to continue a motor activity without repeated verbal cues (e.g. "hold your hands outstretched."
C0751900
MOTOR
C0026650
EP
60342002
Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement.
C0026846
ATROPHY
88092000
A process, occurring in the muscle, that is characterized by a decrease in protein content, fiber diameter, force production and fatigue resistance in response to different conditions such as starvation, aging and disuse.
amyotrophy; muscle_wasting
C2230425
ATROPHY
C2230451
ATROPHY
719191003
C3280173
ATROPHY
C4021581
ATROPHY
C0239647
ATROPHY
C0239830
ATROPHY
Muscular atrophy involving the muscles of the hand.
C3278931
ATROPHY
C4014002
ATROPHY
C2230377
719188003
C1864716
C4024921
ATROPHY
lower_limb_amyotrophy
C4013951
ATROPHY
C1836767
ATROPHY
Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh.
C2230450
ATROPHY
C1847766
ATROPHY
C0026821
SX
C0242979
FATIGUE
80449002
An abnormal, increased fatiguability of the musculature.
fatiguability: muscle_tire_easily
C0236033
MOTOR
249829006
general increase in bulk of a muscle due to an increase in cell volume; it is not due to tumor formation, nor to an increase in the number of cells.
C0026837
MOTOR
16046003
motor impairment whereby the hypertonic state is charcterized by bidirectional increased resistance to passive movement.
C0231530
SX
C1836296
WEAK
310611000009107
C3149744
WEAK
C0026884
MS
88052002
The inability to generate oral-verbal expression, despite normal comprehension of speech. This may be associated with brain diseases or mental diseases.
C0231528
SX
muscle pain
C0026961
CN
37125009
Abnormal dilatation of the iris.
dilated_pupil
C0456703
MOTOR
277374006
A localized contraction of a degenerating muscle, occurring at the point of a sharp blow, independent of the nerve supply. Sometimes a small bump occurs on a muscle at the site of a percussion blow. Myoedema may also occur in uremia and myxedema.
myoedema
C0027066
EP
17450006
A rapid, involuntary jerk of a muscle or group of muscles.
A sudden, brief, strong contraction of a muscle or group of muscles that cannot be controlled.
A sudden, involuntary contraction of a muscle or group of muscles; these movements may develop as a symptom of a number of neurological diseases, including epilepsy, Parkinson's disease, Alzheimer's disease, or Creutzfeldt-Jacob disease.
myoclonic jerks
C0684219
EP
27678003
Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.
Myokymia is characterized by spontaneous, fine fascicular contractions of muscle without muscular atrophy or weakness. Eyelid myokymia results from fascicular contractions of the orbicularis oculi muscle. Eyelid myokymia is typically unilateral, with the most common involvement being one of the lower eyelids. When multiple eyelids are involved, the fascicular contractions of each eyelid are independent of each other.
In most cases, eyelid myokymia is benign, self-limited, and not associated with any disease. Intervention is usually unnecessary. Rarely, eyelid myokymia may occur as a precursor of hemifacial spasm, blepharospasm, Meige syndrome, spastic-paretic facial contracture, and multiple sclerosis.
C0547001
GAIT
250020009
Myopathic gait exaggerated alternation of lateral trunk movements with an exaggerated elevation of the hip
C0027125
MOTOR
3434004
Prolonged failure of muscle relaxation after contraction. This may occur after voluntary contractions, muscle percussion, or electrical stimulation of the muscle. Myotonia occurs in some myopathies such as myotonia congenita, paramyotonia, certain channelopathies, and some forms of musuclar paralysis related to potassium metabolism.
C0027404
SX
recurrent, uncontrollable brief episodes of sleep and lapses in consciousness, often associated with hypnagogic hallucinations, cataplexy, automatic behaviors and sleep paralysis
C0027424
SX
C0027497
C0575155
NECK
298378000
C0007859
SX
C2219659
SX
C0151315
NECK
161882006
A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side
C0422887
MS
246564008
hemi-inattention; sensory_inattention
C0233647
MS
54501006
C0752252
SX
C0028084
SX
C1320474
NECK
405947006
Nuchal rigidity is the inability to flex the neck forward due to rigidity of the neck muscles; if flexion of the neck is painful but full range of motion is present, nuchal rigidity is absent.
C0028643
C2219797
SX
C0239832
C0587055
C0522057
102603008
C2219999
CN
C2219998
CN
C0028738
CN
563001
involuntary, rapid, rhythmic movement of the eyeball
C4013199
CN
C0424002
247651008
C4693319
MS
193662007
Oculomotor apraxia (OMA), is the absence or defect of controlled, voluntary, and purposeful eye movement. It was first described in 1952 by the American ophthalmologist David Glendenning Cogan. People with this condition have difficulty moving their eyes horizontally and moving them quickly. The main difficulty is in saccade initiation, but there is also impaired cancellation of the vestibulo-ocular reflex. Patients have to turn their head in order to compensate for the lack of eye movement initiation in order to follow an object or see objects in their peripheral vision, but they often exceed their target. There is controversy regarding whether OMA should be considered an apraxia, since apraxia is the inability to perform a learned or skilled motor action to command, and saccade initiation is neither a learned nor a skilled action.
oculomotor_apraxia
C0234651
CN
46794001
Ocular bobbing is a distinctive eye movement disorder seen in patients with pontine dysfunction. The typical phenomenon consists of abrupt, spontaneous downward jerks of the eyes with a slow return to the midposition in association with paralysis of spontaneous and reflex horizontal eye movements.
C0234650
CN
33466002
When these back to back saccades occur purely horizontally, they are known as “ocular flutter” and can be a stage of resolving opsoclonus.
C0679441
CN
362967002
C0233765
SX
39672001
Perception of a smell in the absence of a corresponding stimulus.
D0000848
D0000846
D0000852
D0000839
D0000834
D0000833
C0242567
CN
194177006
Opsoclonus, also referred to as “saccadomania” or “dancing eyes”, is characterised by intermittent bursts of large amplitude high velocity multidirectional back to back saccades, and has also been reported in patients with viral encephalitis and metabolic encephalopathy, as well as in those with occult neuroblastoma and drug toxicity.
C4703584
MS
Difficulty reaching to visually guided goals in peripheral vision, with the deficit leaves voluntary eye movements largely unaffected.
C0029124
CN
76976005
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
C0423451
CN
247201009
C1608971
CN
C0029134
CN
66760008
Inflammation of the optic nerve. Commonly associated conditions include autoimmune disorders such as MULTIPLE SCLEROSIS, infections, and granulomatous diseases. Clinical features include retro-orbital pain that is aggravated by eye movement, loss of color vision, and contrast sensitivity that may progress to severe visual loss, an afferent pupillary defect (Marcus-Gunn pupil), and in some instances optic disc hyperemia and swelling. Inflammation may occur in the portion of the nerve within the globe (neuropapillitis or anterior optic neuritis) or the portion behind the globe (retrobulbar neuritis or posterior optic neuritis).
C1287641
VIS
366109004
C0454608
MS
361274000
C0454606
EP
229694001
C2242577
MOTOR
A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech.
C0020651
28651003
fall in blood pressure associated with dizziness, syncope and blurred vision occurring upon standing or when standing motionless in a fixed position.
postiural hypotension
C2370893
MS
311465003
C0030193
SX
C0423674
C0423681
C0677061
C0392185
MS
The involuntary repetition of syllables or words while speaking. It is a form of verbal perseverative behavior.
verbal_repetition
C0233652
SX
25462005
visual_perseveration
C0554970
CN
302200001
A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
C0576496
REFLEX
299747007
The palmo-mental reflex (palm-chin reflex) is the contraction of the mentalis and orbicularis oris muscles causing wrinkling of the skin of the chin with slight retraction of the angle of the mouth as caused by stroking the skin of the ipsilateral palm.
C4539245
CN
C0030353
CN
423341008
swelling of the optic disk, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins.
optic_papillitis; optic_disc_edema; optic_disc_swelling; choked_disc
C0544679
VIS
193671003
C0271197
VIS
64418005
C0497294
SX
C1456784
MS
C0221166
WEAK
1845001
Weakness or partial paralysis in the lower limbs.
C0234488
MS
53096005
C0030486
WEAK
60389000
Complete or partial loss of movement in the lower part of the body, including both legs
C0427159
GAIT
250035005
C0030552
WEAK
41786007
A general term referring to a mild to moderate degree of muscular weakness, occasionally used as a synonym for paralysis (severe or complete loss of motor function).
C0030554
symptoms
91019004
Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.
C0587058
SX
C0948992
C0427160
GAIT
250036006
extra_pyramidal_gait
C0018772
CN
343087000
C0271370
CN
194118007
C0234164
coordination_finding
49768006
C0520823
REFLEX
54360005
C0271388
CN
35743001
Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.
C0751359
MOTOR
A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object).
C1389118
ATROPHY
C0233651
MS
44515000
Persistent repetition of a response to different and perhaps inappropriate stimuli which may be due to a refusal or an inability to interrupt one's behavior or to change from one task to another.
C0240735
SX
102943000
A disorder characterized by a conspicuous change in a person's behavior and thinking.
C0751466
SX
313387002
An abnormally heightened sensitivity to loud sounds
C0085636
SX
409668002
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
C0437428
REFLEX
163852006
C1282373
CN
314783008
C0234964
BALANCE
249985001
Poor balance is an inability to stand upright.
bad_balance; impaired_balance; imbalance
C0563243
SX
C0541940
SX
impotence
C1445953
MS
412786000
C0745076
SX
Poor hygiene can be a sign of self-neglect, which is the inability or unwillingness to attend to one's personal needs. Poor hygiene often accompanies certain mental or emotional disorders, including severe depression and psychotic disorders. Dementia is another common cause of poor hygiene.
C0701810
MS
247588002
C4227456
C0701811
MS
247592009
C3553454
MS
C0206733
SKIN
D0000164
D0000144
D0000145
D0000147
D0000148
D0000149
D0000150
D0000151
D0000152
D0000153
D0000154
D0000155
D0000156
D0000157
D0000158
D0000159
D0000160
D0000161
D0000335
D0000162
D0000163
D0000165
D0000166
C1865820
EP
C1287652
REFLEX
366121000
D0000167
D0000325
D0000168
D0000169
D0000170
D0000324
D0000171
D0000323
C1864817
C2673430
C1504476
WEAK
428334004
C0015300
CN
18265008
An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Also known as exophthalmos.
exophthalmos
C0234512
MS
18358003
The inability to recognize a familiar face or to learn to recognize new faces. This visual agnosia is most often associated with lesions involving the junctional regions between the temporal and occipital lobes. The majority of cases are associated with bilateral lesions, however unilateral damage to the right occipito-temporal cortex has also been associated with this condition
face_agnosia; face_blindness
D0000172
D0000173
D0000174
D0000175
D0000176
D0000177
D0000178
D0000179
D0000180
D0000181
D0000182
D0000183
D0000184
D0000185
D0000186
D0000187
D0000188
D0000189
D0000190
C1850794
ATROPHY
Amyotrophy (muscular atrophy) affecting the proximal musculature
C0221629
WEAK
249939004
A lack of strength of the proximal muscles
C3809138
WEAK
C2674839
WEAK
C0033790
WEAK
7379000
Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing.
C0155300
CN
57138009
C0271312
CN
58200004
C0233757
MS
37224001
C0424230
MS
398991009
Abnormally slow thought processes and physical movement.
pyschomotor impairment; motor retrdation
C0033377
CN
29696001
C2143081
CN
335151000119107
C2143083
CN
340761000119100
C0423296
CN
247010007
C0427069
WEAK
249946008
C0544680
VIS
82180009
C1268591
VIS
129626006
C0270790
WEAK
91327001
Weakness of all four limbs.
C0034372
WEAK
11538006
Severe or complete loss of motor function in all four limbs which may result from bain diseases; spinal cord diseases; peripheral nerve diseases; neuromuscular diseases; or rarely muscular diseases. The locked-in syndrome is characterized by quadriplegia in combination with cranial muscle paralysis. Consciousness is spared and the only retained voluntary motor activity may be limited eye movements. This condition is usually caused by a lesion in the upper brainstem which injures the descending cortico-spinal and cortico-bulbar tracts.
tetraplegia
C0850629
SX
C0850146
SX
C0234254
SX
C0848194
SX
C0234163
COOR
28581003
excessive_rebound
C0454578
MS
229664007
C0424551
SX
267044007
Reduced ability to withstand or participate in activities that induce physical or mental exertion.
C4313370
VIS
C0234632
VIS
13164000
Diminished clarity of vision
C0596002
REFLEX
106146005
Examination of the reflexes includes deep tendon reflexes (muscle stretch reflexes), cranial nerve reflexes, primitive reflexes, cutaneous reflexes, and the plantar response.
C0037090
SX
C0234379
EP
25082004
A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse
pill rolling tremor
C3887611
162221009
An inability to rest, relax, or be still.
restlessness
C4024761
CN
C0035302
CN
232035005
An occlusion of the retinal artery.
C0035317
CN
28998008
Hemorrhage occurring within the retina.
C0520731
CN
9074007
C3887667
A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture.
C0743724
SX
C0277845
BALANCE
35136003
Retropulsion is a form of balance instability in which patients fall backwards. It commonly observed in patients with balance difficulties due to Parkinson's disease.
C0585559
CN
307691008
Reverse ocular bobbing is an abnormal spontaneous eye movement in which the eyes move rapidly and conjugately upwards (fast phase), followed by a slow drift (slow phase) back to the primary position (that is, the reverse of ocular bobbing—fast conjugate downwards deviation, with a slow return up to the midline). This eye movement disorder may be seen in patients with viral encephalitis, metabolic encephalopathy, and in those with pontine lesions.
C0422885
MS
1943009
left-right_confusion; left-right_disorientation
C0694543
NECK
C0576643
REFLEX
299895008
C3842071
CN
C4280872
WEAK
C0457435
WEAK
C0457433
278284007
C0271203
5591009
C2126061
CN
Bulging forward of the right eye. Right exophthalmos.
right_exophthalmos
C2219285
SX
D0000201
D0000191
D0000192
D0000193
D0000194
D0000195
D0000337
D0000196
D0000197
D0000198
D0000199
D0000200
D0000202
D0000203
D0000336
D0000204
C0576499
REFLEX
299750005
A rooting (searching) reflex is when the lips and mouth deviate toward a tactile stimulus delivered to the cheek or near the mouth.
C0240595
CN
95783006
A form of nystagmus in which the eyeball makes rotary motions around the axis.
C0234649
CN
79161002
ocular_dysmetria
C1854375
CN
C0161445
SENSORY
C3266098
C0240952
C0278184
77420001
Scanning speech is a type of ataxic dysarthria in which spoken words are broken up into separate syllables, often separated by a noticeable pause, and spoken with varying force.
C0678573
SX
C0036454
VIS
23388006
Localized defect in the visual field bordered by an area of normal vision.
C2881395
VIS
C2881396
VIS
C0344243
CN
95782001
Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements.
C0036572
SX
C0236818
MS
71959007
A voluntary form of mutism, often associated with psychiatric illness.
elective_mutism
C0234482
MS
331652006
C0149840
EP
112109002
C3842091
SENSORY
C0240991
COOR
445458007
Proprioceptive deficits may produce truncal or appendicular ataxia that resembles cerebellar ataxia. The Romberg test may disclose that the truncal ataxia is due to proprioceptive as opposed to cerebellar dysfunction if the patient begins to sway with feet together when the eyes are closed.
C1291731
SENSORY
106147001
C1262068
SENSORY
C2016535
SENSORY
C2016544
SENSORY
C2016539
SENSORY
C2016549
SENSORY
C2016548
SENSORY
C2016536
SENSORY
C2016542
SENSORY
C2054088
SENSORY
C2054098
SENSORY
C2054092
SENSORY
C2054104
SENSORY
C2054101
SENSORY
C2054091
SENSORY
tactile_sensation_decreased_sensory_level_at_clavicles_T2_dermatome
C2054095
SENSORY
C2189597
SENSORY
C2189598
SENSORY
C2189601
C2189604
C2016489
SENSORY
C2016490
SENSORY
C0423551
SX
C2957106
SX
C2203729
SX
C0432363
SKIN
C0751190
SX
C0349588
C0013404
SX
C0863108
SX
C0037011
SX
C0231688
GAIT
43005009
C0086240
SX
C0563620
MS
285755009
C0848209
CN
398760006
C2881290
CN
C2881289
CN
C0541794
ATROPHY
A process, occurring in skeletal muscle, that is characterized by a decrease in protein content, fiber diameter, force production and fatigue resistance in response to different conditions such as starvation, aging and disuse.
C0271381
CN
40631009
C0455205
C0586407
SX
C0456511
SX
An inability to move the body at sleep onset or upon awakening from sleep lasting seconds to a few minutes.
C2919925
SX
C2232698
SX
C1851908
GAIT
C1321329
CN
C1859270
SX
C0234518
SX
C0424688
HEAD
C1828214
CN
423389004
C0728710
CN
301939004
C0155382
CN
194176002
C0576502
REFLEX
299753007
The snout reflex is puckering and protrusion of the lips upon pressing firmly on the philtrum of the upper lip or tapping on the on the lips. It is a primitive release reflex generally indicative of frontal lobe injury.
C2830004
271782001
Excessive sleepiness and drowsiness
C0023882
WEAK
281411007
Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.
Littles_disease
C0454596
MS
229684006
A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality.
C0231687
GAIT
9447003
C0026838
MOTOR
221360009
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
C0422893
MS
112077003
C0566622
MS
106132005
C0233715
SX
C0037937
SX
C0423673
SX
C0701824
78691002
C1836826
EP
C3662068
MS
47311000119103
C0437345
MS
163754003
C1861462
GAIT
C0427140
GAIT
310021000009109
C0277852
SENSORY
66085007
C4476759
EP
87068006
A habitual positioning of the body with the head and upper back bent forward
C0038379
CN
22066006
Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other.
squint; heterotropia
C0575461
SENSORY
298687002
With patient lying comfortably on his or her back, the examiner gently life the extended leg off the examination table. The patient reports when they experience low back pain or pain radiating down the leg
positive_straight_leg_raising_test; Laseque_sign
C0241261
SENSORY
C0085628
MS
89458003
A state of reduced sensibility and response to stimuli which is distinguished from coma in that the person can be aroused by vigorous and repeated stimulation. The person is still conscious and can make voluntary movements. Stupor is more severe than drowsiness and stuporous patients may not achieve full consciousness even with vigorous stimulation.
obtundation; stuporous; obtunded
C0038506
MS
Disorder in which speech is involuntarily interrupted by hesitations, repetitions, and spasms of the muscles involved in breathing or vocalization.
dysfluency
C0234483
MS
5934007
C0266003
SKIN
C0576505
REFLEX
299756004
The sucking reflex is elicited by lightly touching the lips causing sucking movements of the lips and tongue. It is normal in infants but abnormal in adults.
C0438696
MS
267073005
C2037494
SX
C0576509
CN
299760001
C1457887
SX
Usually a complaint by the patient that is indicative of a disease process.
C0039070
SX
C0234505
25094008
Inability to recognize the form of objects by touch without visual input. That is, an impairment in the recognition of objects based only on based on the texture, size, weight and three-dimensional form of the object in the absence of any major somatosensory deficit.
astereognosis
C0278135
MS
C2039768
MS
extinction
C1142034
GAIT
401211005
Reduced ability to walk in a straight line while placing the feet heal to toe
C0558067
74396008
C0686347
EP
102449007
iatrogenic extrapyramidal disorder produced by long-term administration of antipsychotic drugs; characterized by oral/lingual/buccal dyskinesias and choreoathetoid movements of the extremities.
tardive_dystonia
C0423153
SX
C2830327
C0241360
C0234190
SENSORY
1140008
C0271371
CN
C2881282
CN
C2881281
CN
C0423684
SX
C0161443
SENSORY
C1286920
MS
365252004
C0562573
284614009
C0423618
SX
C0040188
EP
568005
Disorders characterized by recurrent TICS that may interfere with speech and other activities. Tics are sudden, rapid, nonrhythmic, stereotyped motor movements or vocalizations which may be exacerbated by stress and are generally attenuated during absorbing activities. Tic disorders are distinguished from conditions which feature other types of abnormal movements that may accompany another another condition.
C0850630
SX
C2116331
C0235050
C0040264
SX
60862001
symptom of hearing disorder characterized by the sensation of buzzing, ringing, clicking, pulsations, roaring or other noises in the ear.
C2116482
SX
4841000119106
C2116484
SX
C0231690
EP
78691002
Nodding movement of the head or body.
C0241423
50805004
C0235075
CN
C3277232
CN
C0494475
SX
C0040416
CN
24225004
Either no or sluggish response to light (both direct and consensual responses. Thought to be caused from denervation in the postganglionic parasympathetic nerve. Associated with Holmes-Adie syndrome described with Adie's pupil and absent deep tendon reflexes. Overall, this is a benign process (including Holmes-Adie syndrome)
Adie_pupil
C0271189
MS
83824009
C0040485
MOTOR
270476009
Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.
wry_neck
C0028866
CN
388980004
Diseases of the oculomotor nerve or nucleus that result in weakness or paralysis of the superior rectus, inferior rectus, medial rectus, inferior oblique, or levator palpebrae muscles, or impaired parasympathetic innervation to the pupil. With a complete oculomotor palsy, the eyelid will be paralyzed, the eye will be in an abducted and inferior position, and the pupil will be markedly dilated. Commonly associated conditions include neoplasms, CRANIOCEREBRAL TRAUMA, ischemia (especially in association with DIABETES MELLITUS), and aneurysmal compression.
C0679447
MS
130990006
C0454562
MS
229655002
C0454568
MS
229658000
C0233796
SX
307413004
A temporary and reversible loss of memory.
C4524123
SX
C0858596
SX
C4087400
SX
C1142390
SX
C2183888
SX
C3714660
SX
C0040822
EP
26079004
An unintentional, oscillating to-and-fro muscle movement about a joint axis. Tremors are classified by their etiology (familial, parkinsonian, etc.), their location (head, limb, etc.), frequency (slow or fast), or eleciting factor (rest, action, etc.),
C0239842
EP
C0427190
COOR
250067008
Truncal ataxia is manifested by swaying while standing or walking. Its origins may reflect dysfunction of cerebellar or proprioceptive systems.
C4228843
MOTOR
C0241498
C0426983
CN
C0586741
MS
309252004
C0560885
BALANCE
C0278249
SX
286375007
mute; no_speech
C0041657
MS
418107008
Loss of the ability to maintain awareness of self and environment combined with markedly reduced responsiveness to environmental stimuli.
C0424350
MS
248042003
not willing to do what someone wants or asks for; not cooperative
C0150088
MS
32422007
Impairment in sensory and motor response, mental representation, and spatial attention of the body, and the corresponding environment, characterized by inattention to one side and overattention to the opposite side. Left-side neglect is more severe and persistent than right-side neglect.
hemineglect
C0233429
SX
46017004
deficient in order or neatness
C0237284
MS
422768004
non_responsive
C1262130
MS
C0857494
MS
C1504376
MS
C0241526
MS
C0231686
GAIT
22631008
A shaky or wobbly manner of walking.
C4227868
C0427117
BALANCE
249990003
Unsteady when standing is characterized by swaying or falling of the patient when standing upright.
C4229671
C4313875
WEAK
C0575058
CN
298281008
C3280708
COOR
C1843267
C1843175
REFLEX
C0574717
C0241538
SX
C1273957
MOTOR
394680009
C0042023
SX
Urination at short intervals; it may result from increased urine formation, decreased bladder capacity, or lower urinary tract irritation.
C0042024
SX
165232002
Loss of the ability to control the urinary bladder leading to involuntary urination.
C0080274
130951007
Inability to completely empty the urinary bladder during the process of urination
C0426359
SX
C0270882
45655002
50219008
Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.
C0234491
MS
4381006
C0751079
C0339652
CN
246773002
A vertical gaze palsy may be the inability to look upward or downward.
poor upgaze; upgaze palsy; upgaze weakness
C0271386
CN
111533001
Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus.
C0042571
SX
Vertigo is a symptom, rather than a condition itself. It's the sensation that you, or the environment around you, is moving or spinning
C0221203
SX
53788007
C0576567
CN
299818006
Dolls_head_reflex_absent; Dolls_head_reflex_abnormal
C0558843
274816000
C0234502
MS
25762009
Difficulty in recognizing objects by visual input in absence of sensorial visual impairment
C3887875
VIS
12184005
An absolute or relative reduction in the extent of the normal field of vision
C4476823
CN
gaze preference
C0233763
SX
64269007
Optical perception of an object, person or event in the absence of a corresponding stimulus.
C3665347
VIS
397540003
C1856977
MS
C0423000
MS
246670009
C1321318
VIS
404666000
C4228414
C0422943
SX
C0042928
CN
302912005
A loss of the ability to move the vocal folds.
C0751901
MOTOR
C0518179
SX
C0234808
EP
55938009
C0042963
SX
249497008
emesis
C0231712
GAIT
271706000
Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling.
C0426494
CN
249382006
C2202983
CN
248590003
C0427059
CN
249935005
C2202993
WEAK
C0241700
MS
C4477022
WEAK
Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion.
C2219734
WEAK
C4543253
CN
C4062696
WEAK
C0426766
WEAK
249647002
poor_anal_tone
C2228039
WEAK
Reduced strength of the muscles that lift or otherwise move the foot at the ankle.
C2230515
WEAK
C2230518
WEAK
C2230517
WEAK
C2230516
WEAK
C0751409
WEAK
249944006
monoparesis_of_arm
C0741478
C2230475
C2070310
WEAK
C2070309
WEAK
C1832298
WEAK
C0744034
C0576233
WEAK
299471001
C2202998
C2237227
C0575810
299042006
C0239822
WEAK
C2031318
WEAK
C2237231
WEAK
C2237235
WEAK
C2237239
WEAK
C2237244
WEAK
C1834536
WEAK
C0240080
CN
249886001
Partial or complete loss of vision in one half of the visual field(s) of one or both eyes. Subtypes include altitudinal hemianopsia, characterized by a visual defect above or below the horizontal meridian of the visual field. Homonymous hemianopsia refers to a visual defect that affects both eyes equally, and occurs either to the left or right of the midline of the visual field. Binasal hemianopsia consists of loss of vision in the nasal hemifields of both eyes. Bitemporal hemianopsia is the bilateral loss of vision in the temporal fields. Quadrantanopsia refers to loss of vision in one quarter of the visual field in one or both eyes.
hemianopsia
C2110749
WEAK
C0577655
WEAK
C2202999
WEAK
C2202995
WEAK
15633401000119107
C2141892
WEAK
15639641000119109
C2165879
WEAK
15633481000119104
C0427068
WEAK
249945007
monoparesis_of_leg
C0151786
WEAK
26544005
Reduced strength of muscles that perform specific actions at a joint.
C4062882
CN
C2230238
WEAK
C1843637
WEAK
Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior).
C2202996
WEAK
15633441000119109
C2196582
WEAK
13530001000004108
C2218016
WEAK
C0426997
CN
The sternocleidomastoid muscle (SCM) acts to turn the head to the opposite side. Acting together, the two SCMs thrust the head forward and flex the neck
C2070740
WEAK
C2070739
WEAK
C0576333
WEAK
299575007
C2177090
CN
Strength of the trapezius muscle is usually tested by shrugging of the shoulders, although the levator scapulae contributes to this action. Another test of the trapezius is to have the patient attempt to approximate the occipitut of the head to the acromion of the shoulder. When the trapezius is weak the arms hang lower on the affected side and the finger tips touch the hips at a lower level on the affected side.
C2230441
WEAK
A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements.
C2127518
WEAK
C2230402
WEAK
wrist_drop
C2230398
WEAK
C1262477
SX
262285001
The reduction of overall body mass; may be due to disease, diet, or drugs; can be permanent or temporary, and may involve any tissue.
C0856863
An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.
C0240953
WEAK
17211005
Abnormal protrusion of the scapula away from the surface of the back
C2825032
MS
A social or emotional detachment, pathological retreat from objective reality, interpersonal contact and social involvement, as in some forms of schizophrenia, depression, or schizoid, avoidant, or schizotypal personality disorders.
C0424092
247755007
C1408582
MS
Witzelsucht "joking addiction") is characterized by a tendency to make puns, or tell inappropriate jokes or pointless stories in socially inappropriate situations. It often occurs in disinhibited patients with frontal lobe damage.
C1366485
MS
3387000
C1836949
VIS
D0000352
ILAE 1989
Acquired epileptic aphasia
(Landau-Kleffner syndrome)
The Landau-Kleffner syndrome is a childhood disorder in which an acquired aphasia, multifocal spike, and spike and wave discharges are associated. Epileptic seizures and behavioral and psychomotor disturbances occur in two-thirds of the patients. There is verbal auditory agnosia and rapid reduction of spontaneous speech. The seizures, usually GTCS or partial motor, are rare, and remit before the age of 15 years, as do the EEG abnormalities.
Landau-Kleffner syndrome
D0000353
Scheuermann 2009
AIDS as a disease that disposes to non-HIV pathogen persistence and duplication (pathological processes) following opportunistic infections that take advantage of a weakened immune system (physical basis).
D0000354
D0000351
1970 Gastaut
Age
1981 Bancaud
Ictal
ILAE 1989
D0000358
ILAE 1969
Age
ILAE 1989
Age of Onset
2003 Blume
Determination hinges on seizure description, frequency, age at onset, neurological history, functional enquiry, neurological examination and one or more EEGs
2006 Engel
2010 Berg
D0000359
ILAE 1989
Aicardi syndrome occurs in females and is noted for retinal lacunae and absence of the corpus callosum; infantile spasms with early onset; and often asymmetric, diffuse EEG abnormalities generally asynchronous with suppression burst and/or atypical hypsarrhythmia.
Engel 2001
Aicardi syndrome
D0000360
D0000363
Engel 2001
Aminoacidopathies
D0000364
ILAE 1989
Amygdalo-hippocampal (mesiobasal limbic or rhinoencephalic) seizures. Hippocampal seizures are the most common form; the symptoms are those described in the previous paragraphs except that auditory symptoms may not occur. The interictal scalp EEG may be normal, may show interictal unilateral temporal sharp or slow waves, may show bilateral sharp or slow waves, synchronous or asynchronous. The intracranial interictal EEG may show mesial anterior temporal spikes or sharp waves. Seizures are characterized by rising epigastric discomfort, nausea, marked autonomic signs, and other symptoms, including borborygmi, belching, pallor, fullness of the face, flushing of the face, arrest of respiration, pupillary dilatation, fear, panic, and olfactory-gustatory hallucinations.
D0000366
Engel 2001
Angelman Syndrome
D0000369
ILAE 1989
Anterior frontopolar epilepsy
Anterior frontopolar seizure patterns include forced thinking or initial loss of contact and adversive movements of head and eyes, with possible evolution including contraversive movements and axial clonic jerks and falls and autonomic signs.
D0000372
Suleiman 2013
Faciobrachial dystonic seizures are seen in adults in association with LGI1 antibodies and often precede the onset of the limbic encephalitis (Irani et al., 2011).
Other NSAbs are less frequently found in adults with limbic encephalitis such as alpha amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) and c-aminobutyric acid B (GABAB) receptor antibodies (Lai et al., 2009; Lancaster et al., 2010; Boronat et al., 2011). Antibodies to glutamic acid decarboxylase (GAD) have been associated with limbic encephalitis (Malter et al., 2010). Although GAD is an intracellular antigen and therefore GAD Abs themselves may not be pathogenic, it is possible that unrecognized NSAbs coexist with GAD Abs (Zuliani et al., 2012).
Limbic encephalitis has been described in association with a number of different autoantibodies including VGKC-complex Abs (Haberlandt et al., 2011; Suleiman et al., 2011a).
D0000375
Suleiman 2013
Criteria and supportive features to suspect autoimmune epilepsy in children with seizures:
The following two clinical criteria are used to suspect autoimmune epilepsy associated with NSAbs and GAD antibodies (both are needed)
1 Acute or subacute (<12 weeks) onset of symptoms.
2 Exclusion of other causes (CNS infection, trauma, toxic, tumor, metabolic, previous CNS disease).
The following supportive features would strengthen the suspicion of autoimmune epilepsy (patients should have at least 1 of the following):
1 The presence of a well-defined clinical syndrome such as NMDAR or limbic encephalitis
2 CNS inflammation manifested by at least one of:
a CSF pleocytosis (defined as >5 white cells/mm3) or presence of oligoclonal bands, elevated IgG index, or elevated
neopterin (defined as >30 nM)
b MRI abnormality compatible with an inflammatory or autoimmune encephalitis including increased signal in the
mesiotemporal lobe (LE – like syndrome)
c Inflammatory neuropathology on biopsy
3 History of other antibody mediated condition (e.g., myasthenia gravis), organ specific autoimmunity or other autoimmune
disorders. (It is recognized that epilepsy is more common in many autoimmune disorders including multiple sclerosis, systemic lupus erythematosus, type 1 diabetes mellitus
(T1DM), celiac disease, and autoimmune thyroid disease (Vincent & Crino, 2011).)
4 Response to immunotherapy
Classification categories of suspected autoimmune epilepsy in children identified using the criteria and supportive features in Table 1 (Zuliani et al., modified)
Classification categories expressing the likelihood of autoimmune epilepsy based on the presence of NSAbs and GAD Abs and the response to immunotherapy (see Fig. 1):
Definite autoimmune epilepsy is present if:
Known NSAbs are present in serum or CSF
AND there is response to immunotherapy
Probable autoimmune epilepsy is present if
Known NSAbs are present and no immunotherapy responsiveness demonstrated
(immunotherapy unsuccessful or not given)
OR GAD antibodies are present AND there is response to immunotherapy
Possible autoimmune epilepsy is present if known NSAbs are negative and
GAD antibodies are present and no immunotherapy responsiveness demonstrated
(unsuccessful or not given)
OR GAD antibodies are negative and there is a response to immunotherapy
Unlikely autoimmune epilepsy is present if
Known NSAbs and GAD are negative and there is no response to immunotherapy
Unknown autoimmune epilepsy(a) is present if
Known NSAbs and GAD are negative and immunotherapy is not given
(a)Patients in this category may move to a different category if they receive immunotherapy, such as “possible” if they respond or “unlikely” if they did not respond to immunotherapy.
D0000376
D0000381
Engel 2001
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Engel 2006
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
ILAE 2010
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE)
D0000377
ILAE 2010
Autosomal Dominant Epilepsy with Auditory Features (ADEAF)
D0000382
Engel 2001
DIsorders of folic acid and B12 metabolism
D0000383
ILAE 1989
Benign childhood epilepsy with centrotemporal spikes
Benign childhood epilepsy with centrotemporal spikes is a syndrome of brief, simple, partial, hemifacial motor seizures, frequently having associated somatosensory symptoms which have a tendency to evolve into GTCS. Both seizure types are often related to sleep. Onset occurs between the ages of 3 and 13 years (peak 9-10 years), and recovery occurs before the age of 15-16 years. Genetic predisposition is frequent, and there is male predominance. The EEG has blunt high-voltage centrotemporal spikes, often followed by slow waves that are activated by sleep and tend to spread or shift from side to side.
Engel 2001
Benign Childhood Epilepsy with Centrotemporal Spikes
D0000384
ILAE 2010
Benign Epilepsy of Childhood with Central Temporal Spikes (BECTS)
Fischer 2014
It makes little sense to say that someone has an epilepsy syndrome but not epilepsy. If evidence exists for an epilepsy syndrome, then epilepsy may be presumed to be present, even if the risk of subsequent seizures is low.
D0000385
Engel 2001
Benign Familial Infantile Seizures
ILAE 2010
Benign Familial Infantile Epilepsy
D0000386
D0000387
ILAE 2010
Benign Familial Neonatal Epilepsy (BFNE)
D0000388
Engel 2001
Benign Familial Neonatal Seizures
D0000389
D0000390
ILAE 2010
Benign Infantile Epilepsy
D0000391
Engel 2001
Benign Infantile Seizures
D0000392
Engel 2001
Benign Infantile Seizures Nonfamilial
D0000393
ILAE 1989
Benign myoclonic epilepsy in infancy is characterized by brief bursts of generalized myoclonus that occur during the first or second year of life in otherwise normal children who often have a family history of convulsions or epilepsy. EEG recording shows generalized spike-waves occurring in brief bursts during the early stages of sleep. These at- tacks are easily controlled by appropriate treatment. They are not accompanied by any other type of seizure, although GTCS may occur during adolescence. The epilepsy may be accompanied by a relative delay of intellectual development and minor personality disorders.
Engel 2001
Benign Myoclonic Epilepsy In Infancy
D0000394
ILAE 1989
Benign neonatal convulsions are very frequently repeated clonic or apneic seizures occurring at about the fifth day of life, without known etiology or concomitant metabolic disturbance. Interictal EEG often shows alternating sharp theta waves. There is no recurrence of seizures, and the psychomotor development is not affected.
D0000395
ILAE 1989
Benign neonatal familial convulsions are rare, dominantly inherited disorders manifesting mostly on the second and third days of life, with clonic or apneic seizures and no specific EEG criteria. History and investigations reveal no etiologic factors. About 14% of these patients later develop epilepsy.
D0000396
ILAE 2010 Benign Neonatal Seizures (BNS)
D0000397
D0000398
D0000399
Engel 2001
Bilateral perisylvian syndrome
D0000401
D0000402
Engel 2001
Disorders of biotin metabolism
D0000403
D0000468
Engel 2001
Disorders of Carbohydrate Metabolism
D0000470
Engel 2001
Celiac disease
(Epilepsy With Occipital Calcifications And Celiac Disease)
D0000476
D0000475
Engel 2001
Ceroid lipofuscinosis
D0000477
Engel 2001
Drug or other chemically induced seizures
D0000478
ILAE 1989
Cherry Red Spot Myoclonus Syndrome
The clinical picture for the cherry red spot myoclonus syndrome (sialidosis with isolated deficit in neuraminidase) is very similar to that of the Ramsay-Hunt syndrome, with myoclonus, photosensitivity, and cerebellar syndrome. Other characteristics include the nearly constant existence of amblyopia and presence of a cherry red spot on fundoscopic examination. The EEG is similar to that of DCM with the following specific features: The polyspike-wave discharges always correspond to a massive myoclonus and there is no photosensitivity
D0000480
ILAE 1989
Childhood Absence Epilepsy
Pyknolepsy occurs in children of school age (peak manifestation age 6-7 years), with a strong genetic predisposition in otherwise normal children. It appears more frequently in girls than in boys. It is characterized by very frequent (several to many per day) absences. The EEG reveals bilateral, synchronous symmetrical spike-waves, usually 3 Hz, on a normal background activity. During adolescence, GTCS often develop. Otherwise, absences may remit or, more rarely, persist as the only seizure type.
Engel 2001
Childhood Absence Epilepsy
ILAE 2010
Childhood Absence Epilepsy
D0000481
ILAE 1989
Childhood Epilepsy with Occipital Paroxysms
The syndrome of childhood epilepsy with occipital paroxysms is, in general respects, similar to that of benign childhood epilepsy with centrotemporal spikes. The seizures start with visual symptoms (amaurosis, phosphenes, illusions, or hallucinations) and are often followed by a hemiclonic seizure or automatisms. In 25% of cases, the seizures are immediately followed by migrainous headache. The EEG has paroxysms of high-amplitude spike-waves or sharp waves recurring rhythmically on the occipital and posterior temporal areas of one or both hemispheres, but only when the eyes are closed. During seizures, the occipital discharge may spread to the central or temporal region. At present, no definite statement on prognosis is possible.
D0000482
Engel 2001
Chromosomal Abnormalities
D0000483
Bancaud 1981
When focal motor seizure activity is continuous it is known as epilepsia partialis continua
ILAE 1989
Chronic Progressive Epilepsia Partialis Continua of Childhood (Kojewnikow's Syndrome)
D0000486
ILAE 1989
Cingulate. Cingulate seizure patterns are complex partial with complex motor gestural automatisms at onset. Autonomic signs are common, as are changes in mood and affect.
D0000487
ILAE 1989
The classical phenylketonuria can express itself as a West syndrome. A variant of phenylketonuria with biopterins deficiency causes seizures starting in the second 6 months of life in infants who have been hypotonic since birth. The seizures are generalized motor seizures associated with erratic myoclonic jerks and oculogyric seizures.
D0000489
Engel 2001
Coffin-Lowry syndrome
D0000491
Engel 2001
Malformations due to abnormal cortical developments
D0000493
Engel 2001
D-Glyceric Acidemia
D0000494
D0000495
ILAE 1989
Degenerative progressive myoclonic epilepsy (Lundborg type)
The so-called degenerative progressive myoclonic epilepsy (Lundborg type) also falls into this category. The only significant well-individualized group is the Finnish type, described by Koskiniemi et al. (1974). Onset occurs between the ages of 8 and 13 years, with myoclonus (segmental, fragmentary, and massive) and GTCS, associated cerebellar ataxia, and slowly progressive although generally mild mental deterioration. The EEG shows slow abnormalities (theta rhythms and later, delta rhythms), with generalized spike-waves predominantly in the frontal area and photosensitivity. Patients survive >15 years.
D0000497
Engel 2001
Dentatorubropallidoluysian atrophy
D0000498
2013 Suleiman
Previous terms used to describe similar syndromes include devastating epileptic encephalopathy in schoolaged children (DESC) (Mikaeloff et al., 2006) and acute encephalitis with refractory repetitive partial seizures (AERRPS) (Sakuma, 2009). These conditions are characterized by new-onset refractory focal status epilepticus, preceded by fever or infection in previously normal children, followed by a chronic phase of refractory focal epilepsy and severe neurologic impairment (Sakuma et al., 2010). The cause of these conditions is unknown and underlying immune mechanisms have been proposed (Sakuma et al., 2010; Specchio et al., 2010; Nabbout et al., 2011) but not proven.
D0000499
Suleiman 2013
T1DM is a T cell–mediated autoimmune disorder, and there is an increased prevalence of epilepsy in children with this disease (Schober et al., 2012).
D0000507
"Doose Syndrome, also called Myoclonic-Astatic Epilepsy (MAE), is an epileptic condition in children that has no known cause. The seizures, which often begin between the ages of 1 and 5, can be frequent and involve the abrupt loss of muscle control, causing the child to fall to the ground, often resulting in injury."
D0000509
ILAE 1989
Dorsolateral. Dorsolateral seizure patterns may be tonic or, less commonly, clonic with versive eye and head movements and speech arrest.
D0000510
D0000511
Engel 2001
Dravet's Syndrome
ILAE 2010
Dravet's Syndrome
Dravet syndrome is a rare, catastrophic, lifelong form of epilepsy that begins in the first year of life with frequent and/or prolonged seizures. Previously known as Severe Myoclonic Epilepsy of Infancy (SMEI),
D0000512
Engel 2001
Drug or other chemically induced seizures
D0000513
ILAE 1989
Dyssynergia cerebellaris myoclonia (DCM) with epilepsy
Dyssynergia cerebellaris myoclonia (DCM) with epilepsy (Ramsay-Hunt syndrome) appears between the ages of 6 and 20 years (mean 11 years) with myoclonias or GTCS. Above all, the myoclonic syndrome is characterized by action and intention myoclonus. The GTCS are rare and sensitive to therapy. Mental deterioration, when present, is slow. Most of the neurologic manifestations are limited to cerebellar signs. In the EEG, the background activity remains normal, with generalized paroxysmal abnormalities (spikes, spike-waves, and polyspike-waves), and photosensitivity. During REM sleep, rapid polyspikes appear, localized in the central and vertex regions.
D0000520
Engel 2001
Early-Onset Benign Childhood Occipital Epilepsy (Panayiotopoulos Type)
D0000514
D0000515
ILAE 1989
Early infantile epileptic encephalopathy with suppression burst
This syndrome, described by Ohtahara et al. (1976), is defined by very early onset, within the first few months of life, frequent tonic spasms, and suppression burst EEG pattern in both waking and sleeping states. Partial seizures may occur. Myoclonic seizures are rare. Etiology and underlying pathology are obscure. The prognosis is serious with severe psychomotor retardation and seizure intractability; often there is evolution to the West syndrome at age 4-6 months.
D0000516
ILAE 1989
Early myoclonic encephalopathy
The principal features of early myoclonic encephalopathy are onset occurring before age 3 months, initially fragmentary myoclonus, and then erratic partial seizures, massive myoclonias, or tonic spasms. The EEG is characterized by suppression-burst activity, which may evolve into hypsarrhythmia. The course is severe, psychomotor development is arrested, and death may occur in the first year. Familial cases are frequent and suggest the influence of one or several congenital metabolic errors, but there is no constant genetic pattern.
Engel 2001
Early Myoclonic Encephalopathy
ILAE 2010
Early Myoclonic Encephalopathy (EME)
D0000517
Engel 2001
Early Onset Benign Childhood Occipital Epilepsy - Panayiotopoulos Type
D0000518
Engel 2001
Immediate and early post cerebral insult seizures
D0000519
Engel 2001
Immediate and early posttraumatic seizures
D0000524
D0000527
Engel 2001
Epidermal nevus syndrome
D0000528
ILAE 1989
Epilepsy with GTCS on awakening is a syndrome with onset occurring mostly in the second decade of life. The GTCS occur exclusively or predominantly (>90% of the time) shortly after awakening regardless of the time of day or in a second seizure peak in the evening period of relaxation. If other seizures occur, they are mostly absence or myoclonic, as in juvenile myoclonic epilepsy. Seizures may be precipitated by sleep deprivation and other external factors. Genetic predisposition is relatively frequent. The EEG shows one of the patterns of idiopathic generalized epilepsy. There is a significant correlation with photosensitivity.
D0000532
ILAE 1989
Epilepsy with continuous spike-waves during slow-wave sleep
Epilepsy with continuous spike-waves during slow sleep results from the association of various seizure types, partial or generalized, occurring during sleep, and atypical absences when awake. Tonic seizures do not occur. The characteristic EEG pattern consists of continuous diffuse spike-waves during slow wave sleep, which is noted after onset of seizures. Duration varies from months to years. Despite the usually benign evolution of seizures, prognosis is guarded because of the appearance of neuropsychologic disorders.
Engel 2001
Epilepsy with continuous spike-and-waves during slow-wave sleep - Other than LKS.
D0000530
ILAE 2010 Epilepsy of Infancy with Migrating Focal Seizures
D0000533
D0000534
ILAE 2010
Epilepsy with Generalized Tonic-Clonic Seizures Alone
D0000536
ILAE 1989
Epilepsy with myoclonic-astatic seizures
Manifestations of myoclonic-astatic seizures begin between the ages of 7 months and 6 years (mostly between the ages of 2 and 5 years), with (except if seizures begin in the first year) twice as many boys affected. There is frequently hereditary predisposition and usually a normal developmental background. The seizures are myoclonic, astatic, myoclonic-astatic, absence with clonic and tonic components, and tonic-clonic. Status frequently occurs. Tonic seizures develop late in the course of unfavorable cases. The EEG, initially often normal except for 4-7-Hz rhythms, may have irregular fast spike-wave or polyspike wave. Course and outcome are variable.
Engel 2001
Epilepsy with Myoclonic - Astatic Seizures
D0000535
ILAE 1989
Epilepsy with myoclonic absences
The syndrome of epilepsy with myoclonic absences is clinically characterized by absences accompanied by severe bilateral rhythmical clonic jerks, often associated with a tonic contraction. On the EEG, these clinical features are always accompanied by bilateral, synchronous, and symmetrical discharge of rhythmical spike-waves at 3 Hz, similar to childhood absence. Seizures occur many times a day. Awareness of the jerks may be maintained. Associated seizures are rare. Age of onset is -7 years, and there is a male preponderance. Prognosis is less favorable than in pyknolepsy owing to resistance to therapy of the seizures, mental deterioration, and possible evolution to other types of epilepsy such as Lennox-Gastaut syndrome.
Engel 2001
Epilepsy with myoclonic absences
D0000357
D0000538
D0000540
Engel 2001
Familial Focal Epilepsy with Variable Foci
Syndromes in development
ILAE 2010
Childhood to Adult
Familial Focal Epilepsy with Variable Foci
D0000541
Engel 2001
Familial Temporal Lobe Epilepsy
D0000542
ILAE 1989
Febrile convulsions
Febrile convulsions are an age-related disorder almost always characterized by generalized seizures occurring during an acute febrile illness. Most febrile convulsions are brief and uncomplicated, but some may be more prolonged and followed by transient or permanent neurologic sequelae, such as the hemiplegia-hemiatrophy-epilepsy(HHE) syndrome. Febrile convulsions tend to recur in about one-third of affected patients. Controversy about the risks of developing epilepsy later have largely been resolved by some recent large studies; the overall risk is probably not more than 4%. The indications for prolonged drug prophylaxis against recurrence of febrile convulsions are now more clearly defined, and most individuals do not require prophylaxis. Essentially, this condition is a relatively benign disorder of early childhood.
Engel 2001
Another change in terminology evident in this document is the omission of the words “convulsion” and “convulsive” in the list of epileptic seizure types and epilepsy syndromes. The Task Force thought that these are nonspecific lay terms, and at times improperly used. Consequently it was agreed to be consistent, not only in descriptive ictal terminology, but also in naming epileptic seizure types and syndromes, to avoid these terms. For instance, the Task Force is proposing that the term “febrile convulsions” be replaced by “febrile seizures.”
D0000543
Suleiman 2013
Febrile infection-related epilepsy syndrome (van Baalen et al., 2010) or fer-induced refractory epileptic encephalopathy in school-aged children (Nabbout et al., 2010, 2011), both called fever-induced refractory epileptic encephalopathy in school-aged children (FIRES).
D0000544
Engel 2001
Febrile Seizures
Another change in terminology evident in this document is the omission of the words “convulsion” and “convulsive” in the list of epileptic seizure types and epilepsy syndromes. The Task Force thought that these are nonspecific lay terms, and at times improperly used. Consequently it was agreed to be consistent, not only in descriptive ictal terminology, but also in naming epileptic seizure types and syndromes, to avoid these terms. For instance, the Task Force is proposing that the term “febrile convulsions” be replaced by “febrile seizures.”
ILAE 2010
Febrile Seizures
D0000545
Engel 2001
Generalized Epilepsies with Febrile Seizures Plus
Syndromes in development
ILAE 2010
Febrile Seizures Plus (FS+)
Can start in infancy
D0000546
D0000547
Suleiman 2013
Febrile infection-related epilepsy syndrome (van Baalen et al., 2010) or fer-induced refractory epileptic encephalopathy in school-aged children (Nabbout et al., 2010, 2011), both called fever-induced refractory epileptic encephalopathy in school-aged children (FIRES).
D0000548
Engel 2001
Focal or multifocal cortical dysplasia
D0000549
Engel 2001
Focal heterotopia
D0000550
Engel 2001
DIsorders of folic acid and B12 metabolism
D0000552
Engel 2001
Fragile X syndrome
D0000554
ILAE 1989
Frontal lobe epilepsies
Frontal lobe epilepsies are characterized by simple partial, complex partial, secondarily generalized seizures or combinations of these. Seizures often occur several times a day and frequently occur during sleep. Frontal lobe partial seizures are sometimes mistaken for psychogenic seizures. Status epilepticus is a frequent complication.
General characteristics
Features strongly suggestive of the diagnosis include:
1. Generally short seizures.
2. Complex partial seizures arising from the frontal lobe, often with minimal or no postictal
confusion.
3. Rapid secondary generalization (more common in seizures of frontal than of temporal lobe epilepsy).
4. Prominent motor manifestations which are tonic or postural.
5. Complex gestural automatisms frequent at onset.
6. Frequent falling when the discharge is bilateral.
A number of seizure types are described below; however, multiple frontal areas may be involved rapidly and specific seizure types may not be discernible.
D0000556
Engel 2001
Fructose 1-6 diphsphatase deficiency
D0000557
Engel 2001
Fumarase deficiency
D0000563
D0000564
D0000565
ILAE 1989
A juvenile form of Gaucher disease is marked by onset at ~6-8 years of age, with epileptic seizures of various types, most commonly GTCS or partial motor. The EEG shows progressive deterioration of background activity, abnormal photic response, diffuse paroxysmal abnormalities, and multifocal abnormalities with a clear posterior predominance.
D0000566
ILAE 2010
Gelastic Seizures with Hypothalamic Hamartoma
D0000569
Scheuermann 2009
Genetic Disorder: A disorder whose etiology involves an abnormality in the nucleotide sequence of an organism’s genome.
Scheuermann 2009
Genetic Predisposition to Disease of Type X: A predisposition to disease of type X whose physical basis is a constitutional abnormality in an organism’s genome. This abnormality is the physical basis for the increased risk of acquiring disease X.
Examples: p53 mutation in Li-Fraumeni Syndrome predisposing to cancer; ApoE alleles predisposing to Alzheimer’s disease.
D0000570
Engel 2001
Glucose transport protein deficiency
D0000571
Engel 2001
Glycogen-storage disorders
D0000578
ILAE 2010
Hemiconvulsion-Hemiplegia-Epilepsy
D0000577
Engel 2001
Hemiconvulsion-Hemiplegia Epilepsy (HHE) Syndrome
D0000582
D0000589
Engel 2001
Immediate and early post cerebral insult seizures
D0000590
Engel 2001
Immediate and early posttraumatic seizures
D0000592
D0000595
D0000596
D0000597
ILAE 1989
West Syndrome
Usually, West syndrome consists of a characteristic triad: infantile spasms, arrest of psychomotor development, and hypsarrhythmia, although one element may be missing. Spasms may be flexor, extensor, lightning, or nods, but most commonly they are mixed. Onset peaks between the ages of 4 and 7 months and always occurs before the age of 1 year. Boys are more commonly affected. The prognosis is generally poor. West syndrome may be separated into two groups. The symptomatic group is characterized by previous existence of brain damage signs (psychomotor retardation, neurologic signs, radiologic signs, or other types of seizures) or by a known etiology. The smaller, cryptogenic group is characterized by a lack of previous signs of brain damage and of known etiology. The prognosis appears to be partly based on early therapy with adrenocorticotropic hormone (ACTH) or oral steroids.
West syndrome
D0000599
Scheuermann 2009
Infectious Disorder: A disorder whose etiology includes the presence of a pathogenic
organism within a host organism or an abnormal imbalance in the normal resident organismal flora.
Infectious Disease: A disease whose physical basis is an infectious disorder.
Examples: transient: seasonal flu; chronic: genital herpes; progressive: Ebola hemorrhagic fever.
Secondary Infection =def. – A disorder consisting in the presence of a pathogenic organism within a host organism that occurs due to the disposition established by a prior infection with a pathogenic organism of a different kind (e.g. cryptosporidiosis in a patient suffering from AIDS).
D0000604
D0000609
Engel 2001
Isolated lissencephaly sequence
D0000610
ILAE 1989
Late infantile ceroid-lipofuscinosis (Jansky Bielschowski disease) is characterized by onset between the ages of 2 and 4 years of massive myoclonic jerks, atonic, or astatic seizures. The EEG shows slow background rhythms, multifocal spikes, and a characteristic response to intermittent photic stimulation at a slow rate
D0000611
D0000612
ILAE 1989
Juvenile Absence Epilepsy
The absences of juvenile absence epilepsy are the same as in pyknolepsy, but absences with retropulsive movements are less common. Manifestation occurs around puberty. Seizure frequency is lower than in pyknolepsy, with absences occurring less frequently than every day, mostly sporadically. Association with GTCS is frequent, and GTCS precede the absence manifestations more often than in childhood absence epilepsy, often occurring on awakening. Not infrequently, the patients also have myoclonic seizures. Sex distribution is equal. The spike-waves are often >3 Hz. Response to therapy is excellent.
Engel 2001
Juvenile Absence Epilepsy
ILAE 2010
Juvenile Absence Epilepsy
D0000613
ILAE 1989
Impulsive petit mal appears around puberty and is characterized by seizures with bilateral, single or repetitive, arrhythmic, irregular myoclonic jerks, predominantly in the arms. Jerks may cause some patients to fall suddenly. No disturbance of consciousness is noticeable. The disorder may be inherited, and sex distribution is equal. Often, there are GTCS and, less often, infrequent absences. The seizures usually occur shortly after awakening and are often precipitated by sleep deprivation. Interictal and ictal EEG have rapid, generalized, often irregular spike-waves and polyspike-waves; there is no close phase correlation between EEG spikes and jerks. Frequently, the patients are photosensitive. Response to appropriate drugs is good.
Juvenile myoclonic epilepsy is known to be subject to an elevated risk of seizures for several decades, but remissions do still occur.
Engel 2001
Juvenile Myoclonic Epilepsy
D0000618
ILAE 1989
Kojewnikow’s syndrome. Two types of Kojewnikow’s syndrome are recognized, one of which is also known as Rasmussen’s syndrome and is included among the epileptic syndromes of childhood noted under symptomatic seizures. The other type represents a particular form of rolandic partial epilepsy in both adults and children and is related to a variable lesion of the motor cortex. Its principal features are (a) motor partial seizures, always well localized; (b) often late appearance of myoclonus in the same site where somatomotor seizures occur; (c) an EEG with normal background activity and a focal paroxysmal abnormality (spikes and slow waves); (d) occurrence at any age in childhood and adulthood; (e) frequently demonstrable etiology (tumor, vascular); and (f) no progressive evolution of the syndrome (clinical, electroencephalographic or psychological, except in relation to the evolution of the causal lesion). This condition may result from mitochondrialencephalopathy (MELAS).
NOTE: Anatomical origins of some epilepsies are difficult to assign to specific lobes. Such epilepsies include those with pre- and postcentral symptomatology (perirolandic seizures). Such overlap to adjacent anatomic regions also occurs in opercular epilepsy.
In frontal lobe epilepsies, the interictal scalp recordings may show (a) no abnormality; (b) sometimes background asymmetry, frontal spikes or sharp waves; or (c) sharp waves or slow waves (either unilateral or frequently bilateral or unilateral multilobar). Intracranial recordings can sometimes distinguish unilateral from bilateral involvement.
In frontal lobe seizures, various EEG patterns can accompany the initial clinical symptomatology. Uncommonly, the EEG abnormality precedes the seizure onset and then provides important localizing information, such as: (a) frontal or multilobar, often bilateral, low-amplitude fast activity, mixed spikes, rhythmic spikes, rhythmic spike waves, or rhythmic slow waves; or (b) bilateral high amplitude single sharp waves followed by diffuse flattening.
Depending on the methodology, intracranial recordings may provide additional information regarding the chronologic and spatial evolution of the discharges; localization may be difficult.
D0000619
Engel 2001
Krabbe Disease
D0000620
D0000622
Engel 2001
Lafora Disease
D0000621
Onset of Lafora disease occurs between the ages of 6 and 19 years (mean 11.5 years) and is characterized by generalized clonic, GTCS, with a frequent association of partial seizures with visual symptomatology, constant myoclonic jerks (fragmentary, segmental, and massive myoclonus), and rapidly progressive mental deterioration. The EEG shows discharges of fast spike-waves and poly- spike-waves, photosensitivity, deterioration of background activity, and the appearance of multi-focal abnormalities, particularly posteriorly. On the average, death occurs 5.5 years after onset.
D0000623
Engel 2001
Landau-Kleffner Syndrome
ILAE 2010
Landau-Kleffner Syndrome (LKS)
Fischer 2014
continuous spike and waves during sleep and the Landau-Kleffner Syndrome
D0000626
Engel 2001
Late Onset Childhood Occipital Epilepsy - Gastaut Type
ILAE 2010
Late Onset Childhood Occipital Epilepsy Gastaut Type
Engel 2001
Late-Onset Childhood Occipital Epilepsy (Gastaut Type)
D0000843
ILAE 1989
Late infantile ceroid-lipofuscinosis (Jansky Bielschowski disease) is characterized by onset between the ages of 2 and 4 years of massive myoclonic jerks, atonic, or astatic seizures. The EEG shows slow background rhythms, multifocal spikes, and a characteristic response to intermittent photic stimulation at a slow rate
D0000625
D0000629
ILAE 1989
Lateral temporal seizures. Simple seizures characterized by auditory hallucinations or illusions or dreamy states, visual misperceptions, or language disorders in case of language dominant hemisphere focus. These may progress to complex partial seizures if propagation to mesial temporal or extratemporal structures occur. The scalp EEG shows unilateral or bilateral midtemporal or posterior temporal spikes which are most prominent in the lateral derivations.
D0000631
D0000633
ILAE 1989
Lennox-Gastaut Syndrome (LGS)
Lennox-Gastaut syndrome manifests itself in children aged 1-8 years, but appears mainly in pre-school-age children. The most common seizure types are tonic-axial, atonic, and absence seizures, but other types such as myoclonic, GTCS, or partial are frequently associated with this syndrome. Seizure frequency is high, and status epilepticus is frequent (stuporous states with myoclonias, tonic, and atonic seizures). The EEG usually has abnormal background activity, slow spike-waves <3Hz and, often, multifocal abnormalities. During sleep, bursts of fast rhythms (~10 Hz) appear. In general, there is mental retardation. Seizures are difficult to control, and the development is mostly unfavorable. In 60% of cases, the syndrome occurs in children suffering from a previous encephalopathy, but is primary in other cases.
Engel 2001
Lennox-Gastaut Syndrome
ILAE 2010
Lennox-Gastaut Syndrome (LGS)
D0000634
Suleiman 2013
D0000635
Engel 2001
Limbic epilepsies
D0000636
D0000643
D0000645
2001 Engel
Maple syrup urine disease
D0000649
D0000650
Engel 2001
Mesial Temporal Lobe Epilepsy defined by sepcific etiologies
D0000651
Engel 2001
Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis
D0000652
ILAE 2010
Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis
D0000653
D0000655
D0000656
Engel 2001
Microdysgenesis
D0000660
D0000661
Engel 2001
Migrating Partial Seizures of Early Infancy
Syndromes in development
D0000662
Engel 2001
Migrating Partial Seizures of Infancy
Syndromes in development
D0000663
Engel 2001
Miller-Dieker syndrome
D0000644
Engel 2001
Mitochondrial diseases
D0000665
Engel 2001
MELAS
D0000666
D0000668
ILAE 1989
A Ramsay-Hunt-like syndrome can also be associated with a mitochondrial myopathy, with abnormalities of lactate and pyruvate metabolism (Fukuhara et al., 1980).
D0000669
D0000670
ILAE 1989
Motor cortex. Motor cortex epilepsies are mainly characterized by simple partial seizures, and their localization depends on the side and topography of the area involved. In cases of the lower prerolandic area there may be speech arrest, vocalization or dysphasia, tonic-clonic movements of the face on the contralateral side, or swallowing. Generalization of the seizure frequently occurs. In the rolandic area, partial motor seizures without march or jacksonian seizures occur, particularly beginning in the contralateral upper extremities. In the case of seizures involving the paracentral lobule, tonic movements of the ipsilateral foot may occur as well as the expected contralateral leg movements. Postictal or Todd’s paralysis is frequent.
D0000674
Engel 2001
Focal or multifocal cortical dysplasia
D0000675
D0000676
Suleiman 2013
D0000677
Engel 2001
Myoclonic Absence Seizures
D0000678
Engel 2001
Epilepsy with myoclonic astatic seizures
D0000679
D0000680
Engel 2001
Myoclonic Atonic Seizures
ILAE 2010
Myoclonic Atonic Epilepsy
D0000681
D0000682
ILAE 2010
Myoclonic Encephalopathy in Nonprogressive Disorders
D0000683
ILAE 2010
Myoclonic Epilepsy in Infancy (MEI)
D0000684
Engel 2001
Myoclonic Status in Nonprogressive Encephalopathies
Syndromes in development
D0000685
Engel 2001
MERRF
D0000686
Suleiman 2013
N-methyl-D-aspartate receptor (NMDAR) encephalitis in which 76–83% of patients will have focal, focal dyscognitive, or generalized seizures (Dalmau et al., 2007, 2008, 2011; Irani & Vincent, 2011)
NMDAR encephalitis is well described (Florance et al., 2009)
D0000688
ILAE 1989
Neonatal seizures
Neonatal seizures differ from those of older children and adults. The most frequent neonatal seizures are described as subtle because the clinical manifestations are frequently overlooked. These include tonic, horizontal deviation of the eyes with or without jerking, eyelid blinking or fluttering, sucking, smacking, or other buccal-lingual oral movements, swimming or pedaling movements and, occasionally, apneic spells. Other neonatal seizures occur as tonic extension of the limbs, mimicking decerebrate or decorticate posturing. These occur particularly in premature infants. Multifocal clonic seizures characterized by clonic movements of a limb, which may migrate to other body parts or other limbs, or focal clonic seizures, which are much more localized, may occur. In the latter, the infant is usually not unconscious. Rarely, myoclonic seizures may occur, and the EEG pattern is frequently that of suppression-burst activity. The tonic seizures have a poor prognosis because they frequently accompany intraventricular hemorrhage. The myoclonic seizures also have a poor prognosis because they are frequently a part of the early myoclonic encephalopathy syndrome.
D0000690
Engel 2001
Neuroaxonal Dystrophy
D0000691
D0000692
Engel 2001
Neurofibromatosis
D0000693
Engel 2001
Neurofibromatosis
D0000694
Engel 2001
Neurofibromatosis
D0000695
D0000697
Engel 2001
Nonketotic hyperglycinemia
D0000698
D0000700
ILAE 1989
Occipital Lobe Epilepsy
D0000701
Engel 2001
Ohtahara Syndrome
ILAE 2010
Ohtahara
Ohtahara syndrome (also known as early infantile epileptic encephalopathy, EIEE) is a syndrome characterized by frequent intractable seizures and severe early encephalopathy resulting in limited development and reduced life expectancy. Tonic seizures predominate, myoclonic seizures are uncommon, distinguishing this syndrome from early myoclonic encephalopathy. Treatable metabolic etiologies (especially pyridoxine and pyridoxal-5-phosphate disorders) should be excluded early.
NOTE Ohtahara syndrome is considered an 'epileptic encephalopathy'. This term denotes the concept that the epileptic activity itself might directly contribute additional cognitive and behavioral impairments over those expected from the underlying etiology alone, and that suppression of epileptic activity might minimize this additional impairment.
D0000702
Engel 2001
Oligoepilepsy
Fischer 2014
Therefore, epilepsy could be considered present if an unprovoked seizure occurred at age 1 and at age 80, a condition sometimes referred to as oligoepilepsy.
D0000704
ILAE 1989
Opercular. Opercular seizure characteristics include mastication, salivation, swallowing, laryngeal symptoms, speech arrest, epigastric aura, fear, and autonomic phenomena. Simple partial seizures, particularly partial clonic facial seizures, are common and may be ipsilateral. If secondary sensory changes occur, numbness may be a symptom, particularly in the hands. Gustatory hallucinations are particularly common in this area.
D0000707
ILAE 1989
Orbitofrontal. The orbitofrontal seizure pattern is one of complex partial seizures with initial motor and gestural automatisms, olfactory hallucinations and illusions, and autonomic signs.
D0000709
D0000710
Engel 2001
Other organic acidurias
D0000711
D0000718
ILAE 1989
Parietal lobe epilepsies
Partial lobe epilepsy syndromes are usually characterized by simple partial and secondarily generalized seizures. Most seizures arising in the parietal lobe remain as simple partial seizures, but complex partial seizures may arise out of simple partial seizures and occur with spread beyond the parietal lobe. Seizures arising from the parietal lobe have the following features: Seizures are predominantly sensory with many characteristics. Positive phenomena consist of tingling and a feeling of electricity, which may be confined or may spread in a Jacksonian manner. There may be a desire to move a body part or a sensation as if a part were being moved. Muscle tone may be lost. The parts most frequently involved are those with the largest cortical representation (e.g., the hand, arm, and face). There may be tongue sensations of crawling, stiffness, or coldness, and facial sensory phenomena may occur bilaterally. Occasionally, an intraabdominal sensation of sinking, choking, or nausea may occur, particularly in cases of inferior and lateral parietal lobe involvement. Rarely, there may be pain, which may take the form of a superficial burning dysesthesia, or a vague, very severe, painful sensation. Parietal lobe visual phenomena may occur as hallucinations of a formed variety. Metamorphopsia with distortions, foreshortenings, and elongations may occur, and are more frequently observed in cases of nondominant hemisphere discharges. Negative phenomena include numbness, a feeling that a body part is absent, and a loss of awareness of a part or a half of the body, known as asomatognosia. This is particularly the case with nondominant hemisphere involvement. Severe vertigo or disorientation in space may be indicative of inferior parietal lobe seizures. Seizures in the dominant parietal lobe result in a variety of receptive or conductive languages disturbances. Some well-lateralized genital sensations may occur with paracentral involvement. Some rotatory or postural motor phenomena may occur. Seizures of the paracentral lobule have a tendency to become secondarily generalized.
D0000719
Engel 2001
Periventricular nodular heterotopia
D0000720
Engel 2001
Peroxisomal disorders
D0000721
D0000722
2001 Engel
Phenylketonuria
D0000732
Engel 2001
Immediate and early posttraumatic seizures
D0000741
ILAE 1989
Primary reading epilepsy
All or almost all seizures in this syndrome are precipitated by reading (especially aloud) and are independent of the content of the text. They are simple partial motor-involving masticatory muscles, or visual, and if the stimulus is not interrupted, GTCs may occur. The syndrome may be inherited. Onset is typically in late puberty and the course is benign with little tendency to spontaneous seizures. Physical examination and imaging studies are normal but EEG shows spikes or spike-waves in the dominant parieto-temporal region. Generalized spike and wave may also occur.
Engel 2001
Primary Reading Epilepsy
D0000746
Engel 2001
Progressive Myoclonus Epilepsies
ILAE 2010
Progressive Myoclonus Epilepsies (PME)
D0000747
Engel 2001
Propionic acidemia
D0000749
D0000750
ILAE 1989
Pyridoxine dependency is manifested by seizures that have no suggestive characteristics, but this condition must always be suspected since therapeutic intervention is possible.
Engel 2001
Pyridoxine dependency
D0000751
Engel 2001
Pyruvate dehydrogenase deficiency
D0000752
D0000754
ILAE 1989
A Ramsay-Hunt-like syndrome can also be associated with a mitochondrial myopathy, with abnormalities of lactate and pyruvate metabolism (Fukuhara et al., 1980).
D0000755
D0000753
ILAE 1989
Dyssynergia cerebellaris myoclonia (DCM) with epilepsy (Ramsay-Hunt syndrome) appears between the ages of 6 and 20 years (mean 11 years) with myoclonias or GTCS. Above all, the myoclonic syndrome is characterized by action and intention myoclonus. The GTCS are rare and sensitive to therapy. Mental deterioration, when present, is slow. Most of the neurologic manifestations are limited to cerebellar signs. In the EEG, the background activity remains normal, with generalized paroxysmal abnormalities (spikes, spike-waves, and polyspike-waves), and photosensitivity. During REM sleep, rapid polyspikes appear, localized in the central and vertex regions.
D0000756
Engel 2001
Rasmussen Syndrome
D0000757
ILAE 1989
Rasmussen's Syndrome
D0000759
Bancaud 1981
Reflex Seizure
ILAE 1989
Reflex Epilepsy
Blume 2001
Reflex: Objectively and consistently demonstrated to be evoked by a specific afferent stimulus or by activity of the patient. Afferent stimuli can be elementary [i.e., unstructured (light flashes, startle, a monotone)] or elaborate [i.e., structured, (a symphony)]. Activity may be elementary [e.g., motor (a movement)]; or elaborate [e.g., cognitive function (reading, chess playing)], or both (reading aloud).
Engel 2001
Reflex Epilepsies
Reflex epilepsy syndrome: A syndrome in which all epileptic seizures are precipitated by sensory stimuli. Reflex seizures that occur in focal and generalized epilepsy syndromes that are also associated with spontaneous seizures are listed as seizure types. Isolated reflex seizures can also occur in situations that do not necessarily require a diagnosis of epilepsy. Seizures precipitated by other special circumstances, such as fever or alcohol withdrawal, are not reflex seizures (changed concept).
ILAE 2010
Reflex Epilepsy
D0000760
Engel 2001
Respiratory chain defects
D0000761
Engel 2001
Rett syndrome
D0000762
D0000764
D0000767
D0000768
ILAE 1989
Rolandic Partial Epilepsy
D0000769
ILAE 1989
Tay-Sachs and Sandhoff disease present with acoustic startle or myoclonus in the first months of life, without EEG manifestations. In the second year, myoclonic jerks and erratic partial seizures occur, along with marked slowing of the background rhythms.
D0000770
Engel 2001
Sanfilippo syndrome
D0000771
Engel 2001
Schizencephalies
D0000778
ILAE 1989
Severe myoclonic epilepsy in infancy
Severe myoclonic epilepsy in infancy is a recently defined syndrome. The characteristics include a family history of epilepsy or febrile convulsions, normal development before onset, seizures beginning during the first year of life in the form of generalized or unilateral febrile clonic seizures, secondary appearance of myoclonic jerks, and often partial seizures. EEGs show generalized spike-waves and polyspike-waves, early photosensitivity, and focal abnormalities. Psychomotor development is retarded from the second year of life on, and ataxia, pyramidal signs, and interictal myoclonus appear. This type of epilepsy is very resistant to all forms of treatment.
D0000779
By most appropriate genetic designation (e.g. XX, XY, etc).
D0000780
Engel 2001
Sialidosis
D0000781
The clinical picture for the cherry red spot myoclonus syndrome (sialidosis with isolated deficit in neuraminidase) is very similar to that of the Ramsay-Hunt syndrome, with myoclonus, photosensitivity, and cerebellar syndrome. Other characteristics include the nearly constant existence of amblyopia and presence of a cherry red spot on fundoscopic examination. The EEG is similar to that of DCM with the following specific features: The polyspike-wave discharges always correspond to a massive myoclonus and there is no photosensitivity
D0000797
ILAE 1989
The individual phacomatoses have no typical electroclinical pattern. We emphasize that West syndrome is frequent in tuberous sclerosis, and that generalized and partial seizures may follow the otherwise typical course of infantile spasms. Sturge-Weber syndrome is a frequent cause of simple partial seizures followed by hemiparesis.
Engel 2001
Sturge-Weber syndrome
D0000792
Engel 2001
Subcortical band heterotopia
D0000793
Engel 2001
Sulphite-Oxidase Deficiency
D0000800
ILAE 1989
Supplementary motor seizures. In supplementary motor seizures, the seizure patterns are postural, focal tonic, with vocalization, speech arrest, and fencing postures.
D0000803
D0000804
D0000806
ILAE 1989
Tay-Sachs and Sandhoff disease present with acoustic startle or myoclonus in the first months of life, without EEG manifestations. In the second year, myoclonic jerks and erratic partial seizures occur, along with marked slowing of the background rhythms.
D0000810
1989 ILAE
Temporal Lobe Epilepsy
Temporal lobe syndromes are characterized by simple partial seizures, complex partial seizures, and secondarily generalized seizures, or combinations of these. Frequently, there is a history of febrile seizures, and a family history of seizures is common. Memory deficits may occur. On metabolic imaging studies, hypometabolism is frequently observed [e.g., positron emission tomography (PET)]. Unilateral or bilateral temporal lobe spikes are common on EEG. Onset is frequently in childhood or young adulthood. Seizures occur in clusters at intervals or randomly.
General characteristics
Features strongly suggestive of the diagnosis when present include:
1. Simple partial seizures typically characterized by autonomic and/or psychic symptoms and certain sensory phenomena such as olfactory and auditory (including illusions). Most common is an epigastric, often rising, sensation.
2. Complex partial seizures often but not always beginning with motor arrest typically followed by oroalimentary automatism. Other automatisms frequently follow. The duration is typically >1 min. Postictal confusion usually occurs. The attacks are followed by amnesia. Recovery is gradual.
Electroencephalographic characteristics
In temporal lobe epilepsies the interictal scalp EEG may show the following:
1. No abnormality.
2. Slight or marked asymmetry of the background activity.
3. Temporal spikes, sharp waves and/or slow waves, unilateral or bilateral, synchronous but also asynchronous. These findings are not always confined to the temporal region.
4. In addition to scalp EEG findings, intracranial recordings may allow better definition of the intracranial distribution of the interictal abnormalities.
In temporal lobe epilepsies various EEG patterns may accompany the initial clinical ictal symptomatology, including (a) a unilateral or bilateral interruption of background activity; and (b) temporal or multilobar low-amplitude fast activity, rhythmic spikes, or rhythmic slow waves. The onset of the EEG may not correlate with the clinical onset depending on methodology. Intracranial recordings may provide additional information regarding the chronologic and spatial evolution of the discharges.
D0000814
Engel 2001
Tuberous sclerosis complex
D0000815
D0000838
Bancaud 1981
This category includes all seizures that cannot be classified because of inadequate or incomplete data and includes some seizures that by their natures defy classification in the previously defined broad categories. Many seizures occurring in the infant (e.g., rhythmic eye movements, chewing, swimming movements, jittering, and apnea) will be classified here until such time as further experience with video-tape confirmation and electroencephalographic characterization entitles them to subtyping in the extant classification.
D0000816
D0000817
Engel 2001
Unilateral polymicrogyria
D0000819
Engel 2001
Unverricht-Lundborg Disease
D0000837
Engel 2001
Urea Cycle Disorders
D0000825
Suleiman 2013
Voltage-gated potassium channel (VGKC)-complex antibody associated autoimmune limbic encephalitis (including leucine rich glioma inactivated 1 [LGI1] and contactin-associated protein-like 2 [CASPR2] antibodies) in which patients often have temporal lobe seizures (Irani et al., 2010; Lai et al., 2010)
D0000836
ILAE 1989
West Syndrome
Usually, West syndrome consists of a characteristic triad: infantile spasms, arrest of psychomotor development, and hypsarrhythmia, although one element may be missing. Spasms may be flexor, extensor, lightning, or nods, but most commonly they are mixed. Onset peaks between the ages of 4 and 7 months and always occurs before the age of 1 year. Boys are more commonly affected. The prognosis is generally poor. West syndrome may be separated into two groups. The symptomatic group is characterized by previous existence of brain damage signs (psychomotor retardation, neurologic signs, radiologic signs, or other types of seizures) or by a known etiology. The smaller, cryptogenic group is characterized by a lack of previous signs of brain damage and of known etiology. The prognosis appears to be partly based on early therapy with adrenocorticotropic hormone (ACTH) or oral steroids.
Engel 2001
West Syndrome
ILAE 2010
West Syndrome
D0000830
Engel 2001
X-linked lissencephaly
D0000355
Bancaud 1981
Puberty
SIGN 2005
Berg 2010
Blume 2001
Berg 2010
D0000356
Bancaud 1981
Adult Life
D0000479
Bancaud 1981
Childhood
Blume 2001
Berg 2010
D0000523
Blume 2003
Berg 2010
D0000594
Blume 2001
Berg 2010
D0000689
Berg 2010
<= 1Month or 44 weeks gestation
D0000501
Scheuermann 2009
Disease
A disposition
(i) to undergo pathological processes that
(ii) exists in an organism because of one or more disorders in that organism.
Diseases as dispositions rooted in physical disorders in the organism and realized in pathological processes.
(1) to the existence of pre-clinical manifestations of disease (disorders can exist before they are realized in overt pathological processes);
(2) to the combinations of disease and predispositions to disease which can exist within a single patient (as when an instance of disease of type A in a given patient is a risk factor for
a second disease of type B); and
(3) to the fact that the disease course and the clinical picture may vary widely between patients who have the same disease.
Disorder
A causally relatively isolated combination of physical components that is
(a) clinically abnormal and
(b) maximal, in the sense that it is not a part of some larger such combination.
Such disorders are the physical basis of disease. A disease comes into existence because some physical component becomes malformed.
D0000526
D0000841
This is a list of epilepsy syndromes (cited epilepsy syndromes 1989-2014)
ILAE 1989
An epileptic syndrome is an epileptic disorder characterized by a cluster of signs and symptoms customarily occurring together; these include such items as type of seizure, etiology, anatomy, precipitating factors, age of onset, severity, chronicity, diurnal and circadian cycling, and sometimes prognosis. However, in contradistinction to a disease, a syndrome does not necessarily have a common etiology and prognosis.
Engel 2006
Epilepsy syndrome: A complex of signs and symptoms that define a unique epilepsy condition with different etiologies. This must involve more than just the seizure type; thus frontal lobe seizures per se, for instance, do not constitute a syndrome (changed concept).
Fischer 2014
epilepsy syndrome
D0000361
D0000362
D0000573
Suleiman 2013
Graves’ disease is an antibody mediated autoimmune disorder and juvenile myoclonic epilepsy (JME) has been previously associated with Grave’s disease, and may be due to thyroxine causing a lower seizure threshold (Su et al., 1993). Our case 11 was diagnosed to have an idiopathic myoclonic epilepsy (JME) based on her age, seizure phenotype, and EEG abnormality. JME is considered to be a genetic epilepsy, and indeed in this case there was limited evidence that the epilepsy was autoimmune despite the presence of other autoimmune diseases, and her classification was “unknown” as she was negative for NSAbs and received no immunotherapy.
D0000575
Suleiman 2013
Seizures can occur in Hashimoto’s encephalopathy, which is a rare association of autoimmune Hashimoto’s thyroiditis associated with Abs against thyroid peroxidase and thyroglobulin (Castillo et al., 2006). Patients described with Hashimoto encephalopathy present with broad clinical manifestations and are classically reported to be steroid responsive. The role of thyroid antibodies in Hashimoto encephalopathy is uncertain, and the term “steroid responsive encephalopathy associated with autoimmune thyroiditis” (SREAT) has been used to reflect the hypothesis that Hashimoto encephalopathy may be caused by unidentified neuronal autoantibodies (Castillo et al., 2002; Schauble et al., 2003).
D0000580
Engel 2001
Huntington disease
D0000581
ILAE 1989
An infantile type of Huntington’s disease appears after age 3 years, with a slowing of mental development, followed by dystonia, GTCS, atypical absence seizures, and myoclonic seizures. The EEG shows discharges of generalized spike-waves and polyspike-waves, with the usual photic stimulation rate.
Engel 2001
Huntington disease
D0000647
Engel 2001
Menkes' Disease
C0000000