name: Focal impaired awareness bilateral motor seizure

description: A focal bilateral motor seizure characterized by impairment of awareness at some point during the seizure.


Focal bilateral motor seizure

category: biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: A type of focal motor seizure (it commences in one hemisphere) involving bilateral muscle groups rapidly at seizure onset.


name: Focal impaired awareness non-motor seizure

description: A focal non-motor seizure characterized by impaired awareness at some point during the seizure.


name: Focal impaired awareness motor seizure with dystonia

description: A focal motor seizure with dystonia characterized by impaired awareness at some point during the seizure.


Focal motor seizure with dystonia

description: A focal motor seizure in which the initial semiological manifestation is the sustained contraction of both agonist and antagonist muscles producing athetoid or twisting movements, which produces abnormal postures.


name: Focal impaired awareness motor seizure with dysarthria/anarthria

description: A focal motor seizure with dysarthria / anarthria characterized by impaired awareness at some point during the seizure.


name: Focal motor seizure with dysarthria/anarthria

description: A type of focal motor seizure characterized by difficulty with articulation of speech, due to impaired coordination of muscles involved in speech sound production as the initial semiological manifestation. Receptive and expressive language functions are intact, however speech is poorly articulated and is less intelligible.


name: Focal motor seizure with paresis/paralysis

description: A focal motor seizure characterized by weakness or complete paralysis of a muscle or group of muscles as the initial semiological manifestation.


Focal aware tonic seizure

description: A type of focal tonic seizure during which awareness is fully retained throughout.


Focal aware motor seizure with dystonia

description: A focal motor seizure with dystonia characterized by retained awareness throughout the seizure.


Focal impaired awareness tonic seizure

description: A focal tonic seizure in which awareness is partially or fully impaired at some point during the seizure.


Focal impaired awareness clonic seizure

description: A type of focal clonic seizure during which awareness is partially or fully impaired at some point in the seizure.


name: Focal impaired awareness hyperkinetic seizure

description: A focal hyperkinetic seizure in which awareness is partially or fully impaired at some point during the seizure.


Focal emotional seizure with agitation

description: Focal emotional seizure with agitation is characterized by the presence of psychomotor agitation as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures.


Focal impaired awareness atonic seizure

description: A focal atonic seizure in which awareness is partially or fully impaired at some point during the seizure.


Focal emotional seizure with pleasure

description: Focal emotional seizure with pleasure is characterized by the presence of a positive emotional experience with pleasure, bliss, joy, enhanced personal well-being, heightened self-awareness or ecstasy.


name: Focal impaired awareness myoclonic seizure

description: A focal myoclonic seizure in which awareness is partially or fully impaired at some point during the seizure.


Focal aware hyperkinetic seizure

description: A type of focal hypermotor seizure during which awareness is fully retained throughout.


name: Focal aware motor seizure with paresis/paralysis

description: A focal motor seizure with paresis / paralysis characterized by retained awareness throughout the seizure.


name: Focal aware motor seizure with dysarthria/anarthria

description: A focal motor seizure with dysarthria / anarthria characterized by retained awareness throughout the seizure.


Focal aware emotional seizure

description: A focal emotional seizure during which awareness is retained throughout the seizure.


name: Focal aware emotional seizure with anger

description: Focal emotional seizure with anger in which awareness is retained throughout.


Focal emotional seizure with anger

description: Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behavior.


Focal emotional seizure with paranoia

description: Focal emotional seizure with paranoia is characterized by the presence of paranoia as an expressed or observed emotion at the outset of the seizure.


name: Focal aware emotional seizure with fear/anxiety/panic

description: Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is retained throughout.


name: Focal emotional seizure with fear/anxiety/panic

description: Focal emotional seizure with anxiety is characterized by the presence of anxiety, fear or panic as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures.


Focal aware autonomic seizure

description: A focal aware autonomic seizure has an initial manifestation pertaining to autonomic nervous system function, which may be objective (for example, pupillary dilation) or subjective (for example, nausea). As a type of focal aware seizure, awareness is retained throughout.


name: Focal aware emotional seizure with paranoia

description: Focal emotional seizure with paranoia in which awareness is retained throughout.


name: Focal aware emotional seizure with pleasure

description: Focal emotional seizure with pleasure in which awareness is retained throughout.


name: Focal aware emotional seizure with crying

description: Focal emotional seizure with crying (dacrystic)in which awareness is retained throughout.


name: Focal aware emotional seizure with agitation

description: Focal emotional seizure with agitation in which awareness is retained throughout.


name: Focal aware emotional seizure with laughing

description: Focal emotional seizure with laughing in which awareness is retained throughout.


name: Focal impaired awareness emotional seizure

description: A focal emotional seizure in which awareness is partially or fully impaired at some point during the seizure.


name: Focal impaired awareness emotional seizure with pleasure

description: Focal emotional seizure with pleasure in which awareness is partially or fully impaired at some point during the seizure.


name: Focal impaired awareness emotional seizure with anger

description: Focal emotional seizure with anger in which awareness is partially or fully impaired at some point during the seizure.


name: Focal impaired awareness emotional seizure with paranoia

description: Focal emotional seizure with paranoia in which awareness is partially or fully impaired at some point during the seizure.


name: Focal impaired awareness emotional seizure with laughing

description: Focal emotional seizure with laughing in which awareness is partially or fully impaired at some point during the seizure.


name: Focal impaired awareness emotional seizure with crying

description: Focal emotional seizure with crying in which awareness is partially or fully impaired at some point during the seizure.


name: Focal impaired awareness emotional seizure with fear/anxiety/panic

description: Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is partially or fully impaired at some point during the seizure.


name: Focal impaired awareness emotional seizure with agitation

description: A focal emotional seizure with agitation in which awareness is partially or fully impaired at some point during the seizure.


Focal aware sensory seizure

description: A focal sensory seizure during which awareness is retained throughout the seizure.


name: Focal impaired awareness autonomic seizure

description: A focal autonomic seizure characterized by impaired awareness at some point within the seizure.


name: Focal impaired awareness cognitive seizure

description: A focal cognitive seizure in which awareness is partially or fully impaired at some point during the seizure.


Focal aware hemiclonic seizure

description: A focal hemiclonic seizure in which awareness is retained throughout.


Focal aware myoclonic seizure

description: A type of focal myoclonic seizure during which awareness is fully retained throughout.


name: Focal sensory seizure with vestibular features

description: A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation as its first clinical manifestation.


name: Focal sensory seizure with hot-cold sensations

description: A seizure characterized by sensations of feeling hot or cold as its first clinical manifestation.


name: Focal aware autonomic seizure with pallor/flushing

description: A focal autonomic seizure with pallor / flushing characterized by retained awareness throughout the seizure.


name: Focal autonomic seizure with pallor/flushing

description: A type of focal autonomic seizure characterized by changes of the skin as the initial semiological feature.


name: Focal autonomic seizure with pupillary dilation/constriction

description: A type of focal autonomic seizure characterized by pupillary dilatation or contraction as the initial semiological feature.


Focal autonomic seizure with erection

description: A type of focal autonomic seizure characterized by penile erection as the initial semiological feature.


name: Focal autonomic seizure with urge to urinate/defecate

description: A type of focal autonomic seizure characterized by an urge to unripe or defecate as the initial semiological feature.


name: Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration

description: A type of focal autonomic seizure characterized by changes in respiratory rate as the initial semiological feature.


name: Focal autonomic seizure with piloerection

description: A type of focal autonomic seizure characterized by piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) as the initial semiological feature.


name: Focal aware autonomic seizure with pupillary dilation/constriction

description: A focal autonomic seizure with pupillary dilation / constriction characterized by retained awareness throughout the seizure.


name: Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration

description: An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by retained awareness throughout the seizure.


name: Focal aware autonomic seizure with erection

description: A focal autonomic seizure with erection characterized by retained awareness throughout the seizure.


name: Focal autonomic seizure with lacrimation

description: A type of focal autonomic seizure characterized by lacrimation as the initial semiological feature.


name: Focal impaired awareness autonomic seizure with piloerection

description: A Focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by impaired awareness at some point during the seizure.


name: Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole

description: A type of focal autonomic seizure characterized by changes in heart rate as the initial semiological feature.


name: Focal impaired awareness autonomic seizure with urge to urinate/defecate

description: A focal autonomic seizure with urge to urinate / defecate characterized by impaired awareness at some point during the seizure.


name: Focal impaired awareness autonomic seizure with hypoventilation/hyperventilation/altered respiration

description: An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by impaired awareness at some point during the seizure.


name: Focal aware autonomic seizure with lacrimation


name: Focal impaired awareness autonomic seizure with pallor/flushing

description: A focal autonomic seizure with pallor / flushing characterized by impaired awareness at some point during the seizure.


name: Focal impaired awareness autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena

description: A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by impaired awareness at some point during the seizure.


name: Focal impaired awareness autonomic seizure with pupillary dilation/constriction

description: A focal autonomic seizure with pupillary dilation / constriction characterized by impaired awareness at some point during the seizure.


name: Focal impaired awareness autonomic seizure with erection

description: A focal autonomic seizure with erection characterized by impairment of awareness at some point during the seizure.


name: Focal aware autonomic seizure with urge to urinate/defecate

description: A focal autonomic seizure with urge to urinate / defecate characterized by retained awareness throughout the seizure.


name: Focal impaired awareness autonomic seizure with lacrimation

description: A focal autonomic seizure with lacrimation characterized by impaired awareness at some point during the seizure.


name: Focal aware autonomic seizure with piloerection

description: A focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by retained awareness throughout the seizure.


name: Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole

description: An autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by retained awareness throughout the seizure.


name: Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena

description: A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by retained awareness throughout the seizure.


Migrating focal seizure

description: A migrating focal seizure is a seizure that involves different body parts, usually without overlap, in a consecutive manner so that the offset of a seizure in one part coincides with its onset in another, even shifting multiple times between the sides of the body. They can be associated with autonomic manifestations.


name: Focal impaired awareness sensory seizure

description: A focal sensory seizure in which awareness is partially or fully impaired at some point during the seizure.


name: Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole

description: A focal autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by impaired awareness at some point during the seizure.


Focal aware behavior arrest seizure

description: A focal behavior arrest seizure characterized by retained awareness throughout the seizure.


name: Focal impaired awareness behavior arrest seizure

description: A focal behavior arrest seizure characterized by impaired awareness at some point during the seizure.


name: Focal impaired awareness cognitive seizure with anomia

description: A focal cognitive seizure with anomia characterized by impairment of awareness at some point during the seizure.


Tonic seizure

description: A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.


name: Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia

description: A focal cognitive seizure with receptive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.


Myoclonic seizure

description: A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.


description: A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterized by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus.


name: Focal impaired awareness cognitive seizure with left-right confusion

description: A focal cognitive seizure with left-right confusion characterized by impairment of awareness at some point during the seizure.


name: Focal aware sensory seizure with olfactory features

description: Seizures characterized by olfactory phenomena at onset - usually an odor, which is often unpleasant.


name: Focal impaired awareness cognitive seizure with neglect

description: A focal cognitive seizure with neglect characterized by impairment of awareness at some point during the seizure.


name: Focal impaired awareness hemiclonic seizure

description: A focal hemiclonic seizure in which awareness is impaired at some point during the seizure.


name: Focal aware sensory seizure with vestibular features

description: A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation.


name: Focal impaired awareness cognitive seizure with memory impairment

description: A focal cognitive seizure with memory impairment characterized by impairment of awareness at some point during the seizure.


name: Focal impaired awareness cognitive seizure with dyscalculia/acalculia

description: A focal cognitive seizure with dyscalculia / acalculia characterized by impairment of awareness at some point during the seizure.


name: Focal impaired awareness cognitive seizure with dysgraphia/agraphia

description: A focal cognitive seizure with dysgraphia / agraphia characterized by impairment of awareness at some point during the seizure.


name: Focal impaired awareness sensory seizure with olfactory features

description: A focal sensory seizure with olfaction in which awareness is partially or fully impaired at some point during the seizure.


name: Focal impaired awareness sensory seizure with vestibular features

description: A focal sensory seizure with vestibular features in which awareness is partially or fully impaired at some point during the seizure.


name: Focal impaired awareness sensory seizure with visual features

description: A focal sensory seizure with visual features in which awareness is partially or fully impaired at some point during the seizure.


Neonatal seizure

description: A seizure occurring within the neonatal period (28 days beyond the full term date).


name: Neonatal seizure with electrographic correlate

description: Neonatal seizure is a seizure type that occurs in neonatal period and is characterized by an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end. This event can be associated or not with a clinical manifestation.


Neonatal electro-clinical seizure

description: Neonatal electro-clinical seizure is an electrographic event occurring in neonatal period and coupled with a clinical manifestation.


name: Focal sensory seizure with cephalic sensation

description: A seizure characterized by a sensation in the head such as light-headedness or headache as its first clinical manifestation.


Neonatal electrographic only seizure

description: Neonatal electrographic only seizure is an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end, which is not associated with a clinical manifestation.


name: Neonatal electro-clinical non-motor seizure


Neonatal electro-clinical motor seizure

description: Neonatal electro-clinical motor seizure is a type of neonatal electro-clinical seizure with predominant motor features.


description: Neonatal electro-clinical clonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups; it can be symmetric or asymmetric.


description: Neonatal electro-clinical myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal).


Neonatal multifocal myoclonic seizure

description: Neonatal multifocal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) that occurs at multiple sites.


Neonatal focal myoclonic seizure

description: Neonatal focal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) which occurs focally.


Neonatal focal clonic seizure

description: Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is unilateral regularly repeating jerking involving the same muscle groups.


Neonatal bilateral clonic seizure

description: Neonatal bilateral clonic seizure is a type of neonatal electro-clinical clonic seizure where the clonic jerking is bilateral.


Neonatal multifocal clonic seizure

description: Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups, which occurs at multiple sites.


Neonatal electro-clinical tonic seizure

description: Neonatal electro-clinical tonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a sustained increase in muscle tone, usually focal, that can be unilateral or bilateral, and lasting a few seconds to minutes.


name: Neonatal electro-clinical autonomic seizure

description: Neonatal electro-clinical non-motor autonomic seizure is a type of neonatal electro-clinical seizure with predominant features of autonomic alterations, involving cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor, and thermoregulatory functions. May present as apnea.


name: Neonatal electro-clinical seizure with behavior arrest

description: Neonatal electro-clinical non-motor seizure with behavior arrest is a type of neonatal electro-clinical seizure characterized by an arrest of activities, freezing, immobilization, with or without apnea and/or other autonomic manifestations.


Neonatal focal tonic seizure

description: Neonatal focal tonic seizure is a type of neonatal electro-clinical tonic seizure with a focal sustained increase in muscle tone, lasting a few seconds to minutes.


name: Neonatal electro-clinical sequential seizure

description: Neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic signs, often changing lateralization within or between seizures.


Focal neonatal sequential seizure

description: Focal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic focal signs, often changing lateralization within or between seizures.


Multifocal neonatal sequential seizure

description: Multifocal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic multifocal signs.


description: Neonatal bilateral symmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body symmetrically.


description: Neonatal electro-clinical motor seizure with automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awareness, and in association with other features.


description: Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with coordinated motor activity, typically oral, usually with impaired awareness, occurring at both sides of the body asymmetrically.


description: Neonatal bilateral asymmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body but asymmetrically.


description: Neonatal bilateral asymmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) that occurs at both sides of the body asymmetrically.


Neonatal epileptic spasm

description: A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: grimacing, head nodding, or subtle eye movements. May occur in clusters.


name: Neonatal seizure with unilateral automatism

description: Neonatal seizure with bilateral asymmetric automatisms is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awareness, occurring at one side of the body.


name: Neonatal seizure with bilateral symmetric automatism

description: Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awareness, occurring at both sides of the body symmetrically.


description: Neonatal bilateral symmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) that occurs at both sides of the body symmetrically.


name: Bilateral asymmetric neonatal sequential seizure

description: Asymmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting asymmetrically with a variety of clinical and electrographic signs, often changing lateralization within or between seizures.


Neonatal unilateral epileptic spasm

description: Neonatal unilateral epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs at one side of the body.


name: Bilateral symmetric neonatal sequential seizure

description: Symmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting symmetrically but with a variety of clinical and electrographic signs.


description: Neonatal bilateral symmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs symmetrically at both sides of the body.


description: Neonatal bilateral asymmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs asymmetrically at both sides of the body.


Generalized-onset epileptic spasm

description: A type of epileptic spasm of generalized onset.


Focal-onset epileptic spasm

description: A type of epileptic spasm of focal onset.


name: Focal impaired awareness epileptic spasm

description: A type of focal-onset epileptic spasm in which awareness is impaired at some point during the seizure.


Focal aware epileptic spasm

description: A type of focal-onset epileptic spasm in which awareness is preserved throughout the seizure.


name: Focal motor seizure with negative myoclonus

description: A type of focal motor seizure characterized by a sudden interruption in normal tonic muscle activity lasting 500 ms or less, without evidence of preceding myoclonus as the initial semiological manifestation. The interruption in muscle tone is briefer than seen in a focal atonic seizure.


name: Focal impaired awareness hemifacial clonic seizure

description: Focal seizure characterized at onset by clonic movements affecting half of the face with impairment of awareness in which awareness is impaired at some point during the seizure.


name: Focal aware cognitive seizure with neglect

description: A focal cognitive seizure with neglect characterized by retained awareness throughout the seizure.


Aphasic status epilepticus

description: Aphasic status epilepticus is a type of focal non-convulsive status epilepticus without coma characterized by a cognitive (rather than motor) language deficit.


name: Focal aware cognitive seizure with expressive dysphasia/aphasia

description: A focal cognitive seizure with expressive dysphasia / aphasia characterized by retained awareness throughout the seizure.


name: Focal aware sensory seizure with visual features

description: A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis.


name: Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia

description: A focal cognitive seizure with conduction dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.


name: Focal impaired awareness sensory seizure with hot-cold sensations

description: A focal sensory seizure with hot-cold sensations in which awareness is partially or fully impaired at some point during the seizure.


Focal aware hemifacial clonic seizure

description: Focal seizure characterized at onset by clonic movements affecting half of the face with retained awareness throughout.


description: Generalised myoclonic-tonic-clonic seizure provoked by flashing or flickering light.


Focal aware bilateral motor seizure

description: A type of focal bilateral motor seizure during which awareness is fully retained throughout.


name: Focal aware motor seizure with negative myoclonus

description: A focal motor seizure with negative myoclonus characterized by retained awareness throughout the seizure.


name: Focal impaired awareness motor seizure with negative myoclonus

description: A focal motor seizure with negative myoclonus characterized by impairment of awareness at some point during the seizure.


name: Focal impaired awareness motor seizure with paresis/paralysis

description: A focal motor seizure with paresis / paralysis characterized by impaired awareness at some point during the seizure.


description: Generalized non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically generalized. It is a prolonged absence seizure.


description: Focal non-convulsive status epilepticus with impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness is impaired.


Status epilepticus with ictal paresis

description: A type of focal motor status epilepticus characterized by prolonged ictal paresis or inhibitory motor seizures.


Typical absence status epilepticus

description: Typical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged typical absence seizure.


name: Focal aware sensory seizure with auditory features

description: A type of focal sensory seizure with auditory features during which awareness is retained throughout the seizure.


Myoclonic absence status epilepticus

description: Myoclonic absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged myoclonic absence seizure. Myoclonic absence status epilepticus consists of proximal, predominantly upper extremity myoclonic jerks corresponding with 3 Hz spike-wave discharges in the EEG.


Oculoclonic status epilepticus

description: A type of focal motor status epilepticus characterized by repetitive and rapid saccades, in association with epileptic discharges.


Refractory status epilepticus

description: Refractory status epilepticus is defined as status epilepticus continuing despite two appropriately selected and dosed antiepileptic drugs, including a benzodiazepine.


Super-refractory status epilepticus

description: Super-refractory status epilepticus is defined as refractory status epilepticus continuing for 24 h or more following initiation of anesthetic medications, including cases in which seizure control is attained after induction of anesthetic drugs but recurs on weaning the patient off the anesthetic agent.


description: Focal non-convulsive status epilepticus without impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness remains intact.


name: Focal impaired awareness cognitive seizure with dyslexia/alexia

description: A focal cognitive seizure with dyslexia / alexia characterized by impairment of awareness at some point during the seizure.


name: Focal aware cognitive seizure with hallucination

description: A focal cognitive seizure with hallucination characterized by retained awareness throughout the seizure.


name: Focal impaired awareness cognitive seizure with illusion

description: A focal cognitive seizure with illusion characterized by impairment of awareness at some point during the seizure.


name: Focal aware sensory seizure with cephalic sensation

description: A seizure characterized by a sensation in the head such as light-headedness or headache.


name: Focal impaired awareness cognitive seizure with auditory agnosia

description: A focal cognitive seizure with auditory agnosia characterized by impairment of awareness at some point during the seizure.


name: Focal aware cognitive seizure with conduction dysphasia/aphasia

description: A focal cognitive seizure with conduction dysphasia / aphasia characterized by retained awareness throughout the seizure.


name: Focal aware sensory seizure with hot-cold sensations

description: A seizure characterized by sensations of feeling hot and then cold.


name: Focal impaired awareness sensory seizure with cephalic sensation

description: A focal sensory seizure with cephalic sensation in which awareness is partially or fully impaired at some point during the seizure.


name: Focal impaired awareness seizure with dissociation at onset

description: A focal cognitive epileptic seizure with dissociation at the onset of the seizure and with impairment of awareness at at some point during the seizure.


name: Focal impaired awareness sensory seizure with auditory features

description: A focal sensory seizure with auditory features in which awareness is partially or fully impaired at some point during the seizure.


name: Focal impaired awareness cognitive seizure with deja vu/jamais vu

description: A focal cognitive seizure with deja vu / jamais vu characterized by impairment of awareness at some point during the seizure.


name: Focal aware cognitive seizure with deja vu/jamais vu

description: A focal cognitive seizure with deja vu / jamais vu characterized by retained awareness throughout the seizure.


name: Focal aware sensory seizure with somatosensory features

description: A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move. Awareness is retained throughout the seizure.


name: Focal impaired awareness cognitive seizure with hallucination

description: A focal cognitive seizure with hallucination characterized by impairment of awareness at some point during the seizure.


name: Focal impaired awareness cognitive seizure with expressive dysphasia/aphasia

description: A focal cognitive seizure with expressive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.


Generalized atonic seizure

description: Generalized atonic seizure is a type of generalized motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1-2 s, involving head, trunk, jaw, or limb musculature.


name: Focal impaired awareness cognitive seizure with forced thinking

description: A focal cognitive seizure with forced thinking characterized by impairment of awareness at some point during the seizure.


name: Focal aware sensory seizure with gustatory features

description: A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes.


name: Focal impaired awareness sensory seizure with somatosensory features

description: A focal sensory seizure with somatosensory features in which awareness is partially or fully impaired at some point during the seizure.


Focal aware motor seizure with version

description: A focal motor seizure with version characterized by retained awareness throughout the seizure.


Infection-related seizure

description: Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever.


description: Afebrile (less than 38.0 degrees Celcius), brief, and generalized seizures accompanying gastroenteritis without an alternative cause.


name: Seizure precipitated by febrile infection

description: Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age.


name: Febrile seizure outside the age of 3 months to 6 years

description: Any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38.0 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in people beyond the typical arrange of 3 months-6 years with no prior history of afebrile seizure.


Music-induced seizure

description: Seizure precipitated by listening to music or other complex sounds.


name: Focal impaired awareness sensory seizure with gustatory features

description: A focal sensory seizure with gustatory features in which awareness is partially or fully impaired at some point during the seizure.


Focal automatism seizure

description: A focal seizure characterized at onset by coordinated motor activity. This often resembles a voluntary movement and may consist of an inappropriate continuation of preictal motor activity.


Focal orofacial automatism seizure

description: A type of focal automatism seizure characterized by orofacial automatisms at onset.


Focal manual automatism seizure

description: A type of focal automatism seizure characterized by manual automatisms at onset.


Focal pedal automatism seizure

description: A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.


Focal perseverative automatism seizure

description: A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset.


Focal vocal automatism seizure

description: A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset.


Focal verbal automatism seizure

description: A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset.


Focal sexual automatism seizure

description: A type of focal automatism seizure characterized by involuntary sexual behavior at onset.


Focal head nodding automatism seizure

description: A type of focal automatism seizure characterized by involuntary head nodding at onset.


Focal undressing automatism seizure

description: A type of focal automatism seizure characterized by involuntary undressing at onset.


name: Focal aware undressing automatism seizure

description: A type of focal automatism seizure characterized by involuntary undressing at onset and during which awareness is fully retained throughout.


name: Focal impaired awareness automatism seizure

description: A focal seizure with automatism in which awareness is partially or fully impaired at some point during the seizure.


Focal aware automatism seizure

description: A type of focal automatism seizure during which awareness is fully retained throughout.


name: Focal aware orofacial automatism seizure

description: A type of focal automatism seizure characterized by orofacial automatisms at onset and during which awareness is fully retained throughout.


Focal aware manual automatism seizure

description: A type of focal automatism seizure characterized by manual automatisms at onset and during which awareness is fully retained throughout.


Focal aware pedal automatism seizure

description: A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset and during which awareness is fully retained throughout. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.


name: Focal aware perseverative automatism seizure

description: A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset and during which awareness is fully retained throughout.


Focal aware vocal automatism seizure

description: A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset and during which awareness is fully retained throughout.


Focal aware verbal automatism seizure

description: A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset and during which awareness is fully retained throughout.


Focal aware sexual automatism seizure

description: A type of focal automatism seizure characterized by involuntary sexual behavior at onset and during which awareness is fully retained throughout.


name: Focal impaired awareness orofacial automatism seizure

description: A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by orofacial automatisms at onset.


name: Focal aware head nodding automatism seizure

description: A type of focal automatism seizure characterized by involuntary head nodding at onset and during which awareness is fully retained throughout.


name: Focal impaired awareness manual automatism seizure

description: A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by manual automatisms at onset.


name: Focal impaired awareness pedal automatism seizure

description: A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.


name: Focal impaired awareness perseverative automatism seizure

description: A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by inappropriate continuation of pre-seizure movement or behavior at onset.


name: Focal impaired awareness vocal automatism seizure

description: A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset.


name: Focal impaired awareness verbal automatism seizure

description: A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive words, phrases, or brief sentences at onset.


name: Focal impaired awareness sexual automatism seizure

description: A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by involuntary sexual behavior at onset.


name: Focal impaired awareness head nodding automatism seizure

description: A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary head nodding at onset.


name: Focal impaired awareness undressing automatism seizure

description: A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary undressing at onset.


name: Elevated CSF neurofilament light chain concentration

description: Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large caliber myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases.


Abnormal chondrocyte morphology

description: Any abnormal structure of a chondrocyte, which is a polymorphic cell that forms cartilage.


Lacunar halos around chondrocytes

description: Concentric rings around the chondrocytes.


name: Increased circulating pancreatic triacylglycerol lipase level

description: An increased level of triacylglycerol lipase in the blood circulation (can be measured in serum or plasma).


Airway hyperresponsiveness

description: An increased sensitivity of the airways to an inhaled constrictor agonist, a steeper slope of the dose-response curve, and a greater maximal response to the agonist.


Spontaneous cerebrospinal fluid leak

description: A spontaneous cerebrospinal fluid leak (SCSFL) is a spontaneous and unexplained leak of the cerebrospinal fluid from the dura surrounding either the brain (cranial leak) or spine (spinal leak).


name: Posterior crocodile shagreen of the cornea

description: Grayish, polygonal pattern of opacities with intervening clear zones across the central cornea that resembles crocodile skin.


Intrusion symptom

description: Unintentional re-experiencing of a traumatic event involves symptoms that typically include sensory impressions and emotional responses stemming from the trauma. These symptoms seem to lack a sense of time perspective and context.


name: Recurrent, involuntary, and intrusive distressing memories

description: After experiencing psychological trauma, individuals may repeatedly encounter sensory-perceptual impressions of the event that intrude into their consciousness involuntarily. These intrusive memories often manifest as visual images (such as mental pictures), but can also involve sounds, smells, tastes, and physical sensations. They are accompanied by a variety of negative emotions linked to the most intense moments of the traumatic memory.


name: Recurrent trauma-related distressing dreams

description: Recurrent distressing dreams occur when the content and/or emotional impact of the dream is connected to a traumatic event or events.


Physiological reactivity to cues

description: Marked physiological reactions to internal or external cues that symbolize or resemble an aspect of the traumatic event(s).


Dissociation

description: Disruption or detachment of certain aspects of one's normal psychological functioning typically involves a disconnection or separation from thoughts, feelings, sensations, memories, or one's sense of identity or reality.


Intense psychological distress to cues

description: Intense or prolonged psychological distress occurs when individuals are exposed to internal or external cues that symbolize or resemble an aspect of the traumatic event or events.


name: Avoidance of stimuli associated with traumatic event

description: Avoidance of or efforts to avoid distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s). Avoidance of or efforts to avoid external reminders (people, places, conversations, activities, objects, situations) that arouse distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s).


Abnormal urine pH

description: A deviation of urine pH from the normal range of 4.5 to 7.8.


Alkaline urine

description: Urine pH of 8 or higher.


Renal interstitial inflammation

description: Histopathological findings of inflammation of the renal interstitium potentially involving fibrotic as well as non-fibrotic areas, composed of lymphocytes, monocytes, plasma cells.


name: Renal cortical interstitial inflammation

description: Histopathological findings of inflammation of the renal interstitium involving fibrotic as well as non-fibrotic renal cortex, composed of lymphocytes, monocytes, plasma cells.


name: Renal medullary interstitial inflammation

description: Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells.


Renal interstitial fibrosis

description: The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic.


name: Renal interstitial calcium phosphate deposits

description: The presence of interstitial aggregates of purple finely granular/laminated calcium- and phosphate deposits.


Abnormal renal tubular lumen morphology

description: Abnormal structure or form of the lumen (opening) of kidney tubules.


Renal tubular viral cytopathic changes

description: Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. Distal tubules are more commonly involved than proximal tubules. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. Tubular destruction may be associated with necrotizing interstitial granulomas. Severe granulomatous tubulointerstitial nephritis appears to be characteristic of adenoviral infection and is quite rare in other viral infections. Focal wedge-shaped necrosis may occur in renal parenchyma. Immunostaining for adenovirus shows strong nuclear and cytoplasmic staining in infected cells.


Usual-type tubular atrophy

description: A type of renal tubular atrophy in which the tubules show thick tubular basement membranes lined by small cuboidal or flat cells. Generally accompanied by fibrosis.


name: Renal tubular cytomegalovirus inclusions

description: Characteristic intranuclear glassy-appearing basophilic inclusions with surrounding halo (owl's eye-type inclusion) and marked increase in the size of the cell (cytomegaly), particularly in tubular epithelial cells and in endothelial cells. Often accompanied by cytopathic changes including patchy interstitial pleomorphic infiltrate with lymphocytes, plasma cells, and macrophages.


Renal tubular adenovirus inclusions

description: Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage.


Renal tubular polyoma virus inclusions

description: Renal tubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection.


name: Renal tubular herpes simplex virus inclusions

description: Renal tubular nuclear inclusions that stain positive for herpes simplex virus (HSV). HSV is typically associated with multinucleated giant cells with nuclear inclusions and may cause hemorrhagic interstitial nephritis.


Dysmorphic hematuria

description: The presence of dysmorphic urinary erythrocytes. This feature can be observed by phase-contrastmicroscopy, differential interference microscopy, and bright-field microscopy. The acanthocyte or G1 cell, which is a doughnut-shaped cell with one or more blebs, is reported to constitute a special form of dysmorphic erythro-cyte (D cell) specific for glomerular hematuria.


Urinary oval fat bodies

description: The presence in the urine of desquamated tubular epithelial cells or macrophages filled with lipid droplets.


Intratubular calcium oxalate casts

description: Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney.


Intratubular calcium phosphate casts

description: Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney.


name: Magnesium ammonium phosphate crystalluria

description: Magnesium ammonium phosphate crystals in the urine.


Tubular microcystic change

description: Dilated renal tubules (over twice the diameter of a normal proximal tubule) containing eosinophilic amorphous material. This feature is generally accompanied by scalloping of the cast profile. The epithelium lining the microcyst is generally flattened and does not reveal brush border.


Complex renal cyst

description: A renal cyst characterized by epithelium lined space (squamous/columnar) with septations.


Uric acid crystalluria

description: The presence of uric acid crystals in the urine.


Centrilobular emphysema

description: A type of emphysema characterized by destroyed centrilobular alveolar walls and enlargement of respiratory bronchioles and associated alveoli. This is the commonest form of emphysema in cigarette smokers. CT findings are centrilobular areas of decreased attenuation, usually without visible walls, of nonuniform distribution and predominantly located in upper lung zones.


Panacinar emphysema

description: Panacinar emphysema involves all portions of the acinus and secondary pulmonary lobule more or less uniformly. It predominates in the lower lobes and is the form of emphysema associated with1-antitrypsin deficiency. CT scans show a generalized decrease of the lung parenchyma with a decrease in the caliber of blood vessels in the affected lung. Severe panacinar emphysema may coexist and merge with severe centrilobular emphysema. The appearance of feature less decreased attenuation may be indistinguishable from severe constrictive obliterative bronchiolitis.


Expiratory air trapping

description: Abnormal retention of gas within a lung or part of a lung, as a result of airway obstruction of abnormalities in lung compliance. In the classic presentation, the lung will appear normal at inspiration, but on exhalation, the diseased portions of the lung which have lost connective tissue recoil will remain lucent while the healthy portions of the lung will become more dense due to atelectasis. This helps distinguish it from mosaic attenuation due to patchy fibrosis, as occurs with nonspecific interstitial pneumonia, and in early usual interstitial pneumonitis (the hallmark imaging diagnosis of interstitial lung disease) in which there is no change with inspiration and expiration.


Traction bronchiectasis

description: Distortion of the bronchial airways due to mechanical traction on the bronchi resulting from fibrosis of the surrounding lung parenchyma. CT findings represent irregular bronchial dilatation caused by surrounding retractile pulmonary fibrosis. Dilated airways are usually identifiable as such but may be seen as cysts.


Computed tomographic halo sign

description: CT finding of ground-glass opacity surrounding a nodule or mass. It was first described as a sign of hemorrhage around foci of invasive aspergillosis. The halo sign is nonspecific and may also be caused by hemorrhage associated with other types of nodules or by local pulmonary infiltration by neoplasm.


name: Nodular-centrilobular without tree-in-bud pattern on pulmonary HRCT

description: A nodular pattern on pulmonary high-resolution computed tomography which are anatomically located centrally within secondary pulmonary lobules. Centrilobular nodules may be dense (i.e., solid) and of homogeneous opacity or ground-glass opacity, and may range from a few millimeters to about 1 cm in size. Because of the similar size of secondary lobules, centrilobular nodules often appear to be evenly spaced. Centrilobular nodules are usually separated from the pleural surfaces, fissures, and interlobular septa by a distance of at least several millimeters. They may appear patchy or diffuse in different diseases.


name: Abnormal bronchoalveolar lavage fluid morphology

description: Abnormal type or counts of nucleated immune cells and acellular components in bronchoalveolar lavage (BAL) fluid. BAL us performed with a fiberoptic bronchoscope in the wedged position within a selected bronchopulmonary segment. BAL is commonly used to inform the differential diagnosis of interstitial lung disease or to monitor therapeutic interventions.


name: Abnormal cellular composition of bronchoalveolar fluid

description: Deviation from the commonly in healthy people observe cellular distribution. Normal ranges are macrophages over 80%, lymphocytes less than 15%, neutrophils less than 3%, eosinophils less than 0.5%, mast cells less than 0.5%.


name: Abnormal bronchoalveolar fluid protein level

description: Any deviation from the normal concentration of protein in the bronchoalveolar fluid.


name: Elevated bronchoalveolar lavage fluid lymphocyte proportion

description: Usually, Lymphoycytes make up less than 15% of all cells found in the bronchoalveloar lavage fluid. This elevated cell proportion can be induced by virus or drugs, or is associated with specific diseases.


name: Elevated bronchoalveolar lavage fluid neutrophil proportion

description: Usually, Neutrophils make up less than 3% of all cells found in the broncho-alveloar lavage fluid. In children, standard value of neutrophils is higher depending on their age (children under the age of 5 show a maximum value of 10%). This elevated cell proportion is a sign for acute and chronic infections (HP:0012387, HP:0006538) and can be associated to specific diseases.


name: Lipid-laden macrophages in bronchoalveolar fluid

description: Accumulation of lipids in alveolar macrophages with droplet-shaped fat inclusions.


name: Hemosiderin-laden macrophages in bronchoalveolar fluid

description: Hemosiderin-laden macrophages (HLM) in bronchoalveolar lavage (BAL) fluid were originally known as adiagnostic biomarker of alveolar hemorrhage, but have also been observed in idiopathic pulmonary fibrosis (IPF) with histopathological pattern of usual interstitial pneumonia (UIP).


name: Absent bronchoalveolar surfactant-protein C

description: Significantly decreased level or failed detection of surfactant protein C in broncho-alveolar lavage fluid. Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-C may result of surfactant metabolism dysfunction and is also observed in patients with other diffuse parenchymal lung diseases, pathogenetically related to the alveolar surfactant region.


name: Absent bronchoalveolar dimeric surfactant-protein B

description: Significantly decreased level or failed detection of surfactant protein B in broncho-alveolar lavage fluid.


Atoll sign

description: CT finding of central ground-glass opacity surrounded by denser consolidation of crescentic shape (forming more than three-fourths of a circle) or complete ring of at least 2 mm in thickness. A rare sign, it was initially reported to be specific for cryptogenic organizing pneumonia, but was subsequently described in patients with paracoccidioidomycosis.


Abnormal alveolar macrophage morphology

description: Alveolar macrophages usually make up the majority of cells in the bronchoalveolar space (over 80%). The may contain intracellular material depending on underlying diseases or due to exposition to inhaled particles.


name: Dust particle inclusion in alveolar macrophages

description: Accumulation of inhaled, nondigestable particles in macrophages.


name: Smoker-inclusions in alveolar macrophages

description: In otherwise healthy smokers, characteristic so called smoker-inclusion can be found within the macrophages in the bronchoalveolar fluid. These blue/ black/ round/ oval cytoplasmic inclusions consist of pigmented lipid deposits.


name: Elevated bronchoalveolar lavage fluid eosinophil proportion

description: Usually, eosinophils make up less than 0.5% of all cells found in the broncho-alveloar lavage fluid. But in eosinophilic lung disease, the eosinophil cell proportion typically represents more than 25%. Comment: An elevated level of eosinophil cells are also a result of infections, or an allergic reaction or can be drug-induced.


Persistent head lag

description: The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows: 0 = head drops and stays back, 1 = tries to lift head but drops it back, 2 = able to lift head slightly, 3 = lifts head in line with body, and 4 = head in front of body. This term applies if head lag persists beyond an expected age at a level of 0 or 1. Persistent head lag beyond age 4 mo has been linked to poor outcomes.


Delayed ability to roll over

description: Delayed achievement of the ability to roll front to back and back to front.


Localized pulmonary hemorrhage

description: Circumscribed pulmonary hemorrhage originating from a single bleeding site in the lungs. This can be due to infections, tumorigenesis, foreign bodies, or vascular abnormalities. Patient often feel the site of bleeding, contrast CT scan or angiography may localize the bleeder.


Abnormal pulmonary fissure morphology

description: An abnormal form or number of the pulmonary fissures.


Abnormal pulmonary fissure architecture

description: An abnormal form or location of a pulmonary fissure.


Abnormal pulmonary fissure count

description: A deviation from the normal number of pulmonary fissures.


Supernumerary pulmonary fissure

description: Presence of a lung fissure that does not exist normally. Supernumerary fissures include the superior accessory fissure, the medial basal fissure, the left horizontal fissure, and the azygos fissure form supernumerary lobes.


Decreased pulmonary fissure count

description: Lack of one or more of the normal pulmonary fissures.


Abnormal cystatin C level

description: Any deviation from the normal concentration of cystatin C in serum or plasma.


Decreased cystatin C level

description: A decreased concentration of cystatin C in the blood circulation.


Increased cystatin C level

description: A elevated concentration of cystatin C in the blood circulation.


Increased fecal porphyrin

description: Abnormally high concentration of fecal porphyrins in feces.


Subglottic laryngitis

description: Narrowing of the larynx, commonly occuring during viral respiratory tract infections, in particular in children, leads to symptoms such as hoarseness, a barking cough, stridor, and sometimes dyspnea and respiratory failure.


Tracheal papilloma

description: A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the trachea.


Palmar warts

description: Multiple verrucous lesions on the skin of the palm. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by human papillomavirus (HPV).


Diffuse alveolar damage

description: Diffuse alveolar damage (DAD) describes a common histologic injury pattern of the lung. The early stages are characterized by epithelial cell necrosis and sloughing, fibrous exsudate, edema, and hyaline membranes made of surfactant and proteins, filling the alveoli. This results in impaired gas exchange. In later stages, type II cells and myofibroblasts proliferate within the interstitium and airspaces. The corresponding clinical entity is acute respiratory distress syndrome (ARDS). DAD may result from pulmonary drug toxicity, occurs in immunosuppressed, severe viral infections, acute interstial pneumonitis, and crack cocaine inhalation.


Architectural distortion of the lung

description: Architectural distortion is characterized by abnormal displacement of bronchi, vessels, fissures, or septa caused by diffuse or localized lung disease, particularly interstitial fibrosis. This is visible in lung biopsy and CT scans in a distorted appearance and is usually associated with pulmonary fibrosis and accompanied by volume loss.


Increased Z-disc width

description: Abnormally increased width of the Z-disk of the sarcomere, resulting from splitting or opening of the Z-disc (c.f., Figure 2 of PMID:28732005).


Increased fecal coproporphyrin 1

description: Abnormally high concentration of coproporphyrin 1 in feces.


Increased fecal coproporphyrin 3

description: Abnormally high concentration of coproporphyrin 3 in feces


Platystencephaly

description: Extreme width of the skull in the occipital region, with anterior narrowing and prognathism.


name: Abnormal salivary metabolite concentration

description: Any deviation from the normal concentration of a metabolite in saliva.


Abnormal salivary cortisol level

description: Any deviation from the normal concentration of cortisol in saliva.


Decreased salivary cortisol level

description: Abnormally reduced concentration of cortisol in saliva.


Increased salivary cortisol level

description: Abnormally elevated concentration of cortisol in saliva.


Chronic decreased circulating IgD

description: A lasting reduction beneath the normal level of total immunoglobulin D (IgD) in the blood.


Transient decreased circulating IgD

description: A temporary reduction beneath the normal level of total immunoglobulin D (IgD) in the blood circulation.


Chronic absent circulating IgD

description: A lasting absence of immunoglobulin D (IgD) in the blood, whereby at most trace quantities of IgD can be measured.


Transient decreased circulating IgE

description: A temporary reduction beneath the normal level of total immunoglobulin E (IgE) in the blood.


Chronic decreased circulating IgE

description: A lasting reduction beneath the normal level of total immunoglobulin E (IgE) in the blood.


Chronic absent circulating IgE

description: A lasting absence of immunoglobulin E (IgE) in the blood circulation, whereby at most trace quantities of IgE can be measured.


Transient decreased circulating IgA

description: A temporary reduction beneath the normal level of total immunoglobulin A (IgA) in the blood circulation.


Chronic absent circulating total IgG

description: A lasting absence of immunoglobulin G (IgG) in the blood, whereby at most trace quantities of IgG can be measured.


White oral mucosal macule

description: A small circumscribed whitish change in the color of the oral mucosa that is neither elevated nor depressed.


Retinal peau d'orange

description: A pebbly orange appearance of the fundus that is said to resemble the skin of an orange.


name: Anti-U1 ribonucleoprotein antibody positivity

description: The presence autoantibodies in the serum that react to proteins (70 Kd, A, C) that are associated with U1 RNA and form U1snRNP.


name: Anti-glomerular basement membrane-antibody positivity

description: The presence of autoantibodies in the serum that react to the glomerular basement membrane.


Hyperpyrexia

description: An extreme elevation of core body temperature above normal defined as a rectal temperature of 41.1 degrees Celsius (106 degrees Fahrenheit).


Anti-MDA5 antibody positivity

description: The presence of autoantibodies in the serum that react to Anti-MDA5 (Anti-melanoma differentiation-associated proteine 5).


name: Anti-citrullinated protein antibody positivity

description: The presence autoantibodies in the serum that react do different citrullinated antigens, including filaggrin, fibrinogen, vimentin and collagen.


Abnormal Schwann cell morphology

description: Abnormality of schwann cells, glial cells that ensheath axons of neurons in the peripheral nervous system and are necessary for their maintenance and function.


Decreased nasal nitric oxide

description: Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure.


Migratory arthritis

description: A form of reactive arthritis in which the inflammation moves between joints.


description: The presence of autoantibodies in the serum that react to RNA-polymerase III.


Increased circulating precipitin level

description: The presence of high titers of antigen-precipitating IgG in the serum.


Anti-Sm antibody positivity

description: The presence of autoantibodies in the serum that react to seven proteins that consist of a core of small nuclear ribonucleoprotein (snRNP) particles.


Cytokine storm

description: Excessive or uncontrolled release of proinflammatory cytokines.


Abnormal chorion morphology

description: Any structural anomaly of the fetal part of the placenta, which is known as the chorion.


Edematous chorionic villi

description: Swelling of the chorionic villi owing to fluid accumulation.


Motor regression

description: Loss of previously achieved motor skills, as manifested by loss of developmental motor milestones.


Bipedal edema

description: A palpable swelling in both feet and ankles caused by an increase in interstitial fluid volume (excess fluid).


Body ache

description: Body ache is a complaint that is often used to denote vague symptoms of mild fatigue, lethargy, or dull aches. We will define it here to mean a dull and poorly localizable pain that is described by the affected individual to affect multiple joints or body parts or even the entire body.


name: Substantia nigra hypointensity on susceptibility-weighted imaging

description: Hypointence (dark) appearance of the substantia nigra inmagnetic resonance imaging using susceptibility weighted imaging (SWI).


name: Globus pallidus hypointensity on susceptibility-weighted imaging

description: Hypointence (dark) appearance of the globus pallidus inmagnetic resonance imaging using susceptibility weighted imaging (SWI).


Pharyngalgia

description: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the throat.


Impaired executive functioning

description: A disturbance of executive functioning, which is broadly defined as the set of abilities that allow for the planning, executing, monitoring, and self-correcting of goal-directed behavior while inhibiting task-irrelevant behavior. At least some degree of executive skill is needed to complete most cognitive tasks, and deficits in executive abilities are central to many clinical conditions, including fronto-temporal dementia.


Non-epileptic seizure

description: Psychogenic non-epileptic seizures (PNES) are not abnormal perceptions or abnormal beliefs/judgments, nor are they epileptic attacks. They are behaviors that simulate epileptic attacks, not fully consciously.


Pseudoseizure

description: Sudden, involuntary seizure-like attacks that, unlike epileptic seizures, are not related to electrographic ictal discharges.


Myoclonic tremor

description: A tremor-like cortical myoclonus. The tremulous movements are in fact small, high-frequency myoclonic jerks, induced by posture or action. They can be mild, but can also be more incapacitating. When present in the lower limbs, these may lead to gait disorders and even drop attacks. These tremor-like movements during action can be mistaken for essential tremor or epileptic seizures.


Impaired ability to plan

description: Impaired ability to anticipate future events, implement instructions or goals, and develop appropriate steps ahead of time in order to carry out a task or activity.


Impaired ability to organize

description: Impaired ability to bring order to information, actions, or materials to achieve a goal or to follow an established organized routine.


name: Decreased circulating terminal complement component concentration

description: Concentration below the lower limit of normal of one or more components of the the terminal membrane attack complex (MAC) portion of complement, which represents the lytic, pore-forming part of the system. The MAC comprises seven components: C5b, C6, C7, C8 (a heterotrimer composed of C8alpha, C8beta and C8gamma) and multiple copies of C9.


name: Decreased circulating complement C7 concentration

description: Concentration of the complement component C7 in the blood circulation below the lower limit of normal.


name: Decreased circulating complement C6 concentration

description: Concentration of the complement component C6 in the blood circulation below the lower limit of normal.


name: Decreased circulating complement C5 concentration

description: Concentration of the complement component C5 in the blood circulation below the lower limit of normal.


Increased factor IX activity

description: Elevated activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.


Abnormal factor IX activity

description: Abnormal activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.


Shortened sleep phase

description: A tendency to sleep fewer hours than usual while feeling well-rested.


name: Renal interstitial globotriaosylceramide inclusions

description: Accumulation of globotriaosylceramide (GL-3) in kidney tissues, which can be quantified as the number of globotriaosylceramide (GL-3) inclusions/kidney interstitial capillary (KIC).


Mild albuminuria

description: The presence of mildly increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio (ACR) less than 30 mg/gm (less than 3.4 mg/mmol).


Severe albuminuria

description: The presence of severely increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio greater than 300 mg/gm (greater than 34 mg/mmol).


Medication crystalluria

description: A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber color. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance.


name: Renal interstitial IgG4+ plasma cell infiltration

description: An increased number of IgG4+ plasma cells in the interstitial space of the kidney.


Impaired self monitoring

description: Impaired ability to track awareness of the effect that one's behavior has on others and how it compares with standards or expectations for behavior.


Impaired task monitoring

description: Impaired ability to keep track of one's problem-solving success or failure, and to identify and correct mistakes during performance of a goal.


Abnormal macroscopic urine appearance

description: Anomalous physical appearance (color, cloudiness, clarity) or odor of urine.


Urate tophus

description: Intradermal urate crystal deposits appeared as small, superficial, pustule-like, whitish lesions. The lesions may be the focus of inflammatory episodes with increasing pain, swelling, and erythema of the intradermal tophi.


Steroid-responsive anemia

description: Amelioration of anemia upon treatment with a steroid medication.


name: Inappropriately normal thyroid-stimulating hormone level

description: A normal or elevated serum thyroid-stimulating hormone (TSH) level in the face of an elevation in circulating FT4 and/or FT3.


name: Abnormal circulating free T4 concentration

description: A deviation from the normal concentration of free thyroxine (T4) in the blood circulation. Circulating T4 is almost entirely bound to specific transport proteins such as thyroxine-binding globulin (TBG) but it is the unbound (free) fraction that is able to enter tissues and exert effects.


name: Increased circulating free T4 concentration

description: An elevated concentration of free thyroxine (fT4) in the blood circulation.


name: Decreased circulating free T4 concentration

description: A reduced concentration of free thyroxine (fT4) in the blood circulation.


Aplasia/Hypoplasia of the thyroid gland

description: Absence or underdevelopment of the thyroid gland.


name: Abnormal TSH response to thyrotrophin-releasing hormone stimulation test

description: Thyrotrophin-releasing hormone (TRH) is a hypothalamic tripeptide synthesized by, stored within, and released from the hypothalamus. It stimulates the synthesis and release of thyroid-stimulating hormone (TSH) from the anterior pituitary gland. Following administration of exogenous TRH, a transient increase in serum TSH is expected. This term refers to an abnormal response in the TRH stimulation test.


name: Absent TSH response to thyrotrophin-releasing hormone stimulation test

description: Failure to increase serum TSH levels in response to a TRH stimulation test.


name: Reduced TSH response to thyrotrophin-releasing hormone stimulation test

description: A lower than normal TSH response to thyrotrophin-releasing hormone stimulation test.


name: Increased circulating farnesol concentration

description: An elevated level of farnesol in the blood circulation.


Abnormal antral follicle count

description: Any deviation from a count of antral follicles that is normal for age. Antral follicles appear as small fluid-filled sacs that contain an immature egg. Antral follicle count can be measured (usually on day 2-5 of the menstrual cycle) by transvaginal ultrasound. The number of antral follicles may reflect ovarian reserve.


Reduced antral follicle count

description: A count of antral follicles that is lower than normal for age.


Increased antral follicle count

description: A count of antral follicles that is higher than normal for age.


Quotidian fever

description: Fever that occurs at daily intervals.


Valinuria

description: Urine valine level above the normal range.


Branched-chain aminoaciduria

description: An increased level of a branched chain family amino acid in the urine.


name: Increased aromatic amino acid level in urine

description: An elevated level of an aromatic amino acid in the urine.


Tyrosinuria

description: An abnormally increased level of tyrosine in the urine.


Increased urine succinate level

description: The concentration of succinate in the urine, normalized for urine concentration, is above the upper limit of normal.


name: Increased glutamine family amino acid level in urine

description: An elevated level of an glutamine family amino acid in the urine.


Increased urine glutamate level

description: An increased concentration of glutamate in the urine.


name: Increased sulfur amino acid level in urine

description: An elevated level of a sulfur-containing amino acid in the urine.


name: Increased aspartate family amino acid level in urine

description: An elevated level of an aspartate family amino acid in the urine.


name: Increased urine proteinogenic amino acid derivative level

description: An elevated urine level of a compound that is derived from an amino acid.


name: Increased urinary non-proteinogenic amino acid level

description: An increased level in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.


name: Increased serine family amino acid in urine

description: An increased level of a serine family amino acid in the urine.


name: Increased proteinogenic amino acid level in urine

description: An elevated level of a proteinogenic amino acid in the urine. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine.


Elevated urine aconitic acid level

description: An abnormally increased level of aconitic acid in the urine.


Monkey wrench femoral neck

description: The femoral neck region shows medial metaphyseal beaking and a significant enlargement of the lesser trochanter (with some enlargement also of the greater trochanter), producing a monkey wrench (Swedish key) configuration of the proximal femur. A monkey wrench refers to a type of adjustable wrench with one fixed and one adjustable jaw at right angles to a straight handle.


Elevated circulating CHI3L1 level

description: Increased concentration of chitinase 3-like 1 (CHI3L1) in the blood circulation.


Inappropriate absence of fever

description: Failure to develop fever in the presence of an infection that normally would be expected to elicit a febrile response.


Interhypothalamic adhesion

description: An abnormal parenchymal band connecting the medial margins of the left and right hypothalami across the third ventricle.


name: Elevated circulating D-dimer concentration

description: An increased concentration of D-dimers, a marker of fibrin degradation, in the blood circulation.


name: Abnormal circulating proteinogenic amino acid concentration

description: An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine.


name: Abnormal circulating proteinogenic amino acid derivative concentration

description: Any deviation from the normal concentration in the blood circulation of a compound that is derived from an amino acid.


name: Abnormal circulating non-proteinogenic amino acid concentration

description: Any deviation from the normal concentration in the blood circulation of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.


name: Elevated circulating alpha-aminobutyric acid concentration

description: An abnormally increased level of alpa-aminobutyric acid in the blood circulation. Alpha-aminobutyric acid alpha-amino acid that is butyric acid bearing a single amino substituent located at position 2.


3-hydroxyisovaleric aciduria

description: Concentration of 3-hydroxyisovaleric acid in the urine above the normal range.


name: Elevated circulating apolipoprotein C-III concentration

description: An increased concentration in blood of apolipoprotein C-III, a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons.


Gallop rhythm

description: In the normal heart cycle, two heart sounds can be heard by auscultation per cycle: S1 and S2. A gallop rhythm refers to the presence of three or four heart sounds per cardiac cycle, which is said to resemble the gallop of a horse.


Quadruple gallop rhythm

description: A type of gallop rhythm in which both the third and the fourth sounds are present.


Elevated circulating tenascin-C level

description: Abnormally increased concentration of tenascin-C in the blood circulation.


Duodenal gastric metaplasia

description: Foci of gastric-type mucus-secreting cells interspersed between duodenal enterocytes. These foci of gastric epithelial cells contain Periodic acid-Schiff (PAS)-positive neutral mucin and lack a brush border.


Abnormal right ventricular function

description: Anomalous physiology (function) of the right ventricle.


name: Elevated right ventricular systolic pressure

description: Elevation of right ventricular systolic pressure (RVSP) above normal limits. In adults, RVSP is normally 20-30 mmHg.


Nummular eczema

description: A type of eczema characterized by pruritic coin-shaped patches on the skin. Nummular eczema most commonly occurs on the extremities, particularly the legs, but may occur anywhere on the trunk, hands, or feet


Barking cough

description: A cough with a characteristic sound that has been compared to a seal's bark.


Absent P wave

description: The P wave that normally precedes each QRS complex by a fixed PR interval of 120 to 200 milliseconds is not present.


Elevated circulating osteopontin level

description: Abnormally increased level of osteopontin in the blood circulation


Increased serum sorbitol concentration

description: An increased level of sorbitol in the blood circulation.


Cutaneous necrosis

description: Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red colored skin.


name: Abnormality of the musculoskeletal system

description: An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body.


Delayed ability to crawl

description: A failure to achieve the ability to crawl at an appropriate developmental stage. Normal infant motor development is marked by a series of postural milestones including learning to crawl on hands and knees between the ages of 6 and 10 months.


Abnormal shoulder physiology

description: Anopmalous function of the shoulder. The shoulder is a ball-and-socket joint that is made up of humerus, scapula and clavicle, which are connected by the sternoclavicular joint (SC), the acromioclavicular joint (AC), the glenohumeral joint (GH), and the scapulothoracic joint (ST). The GH, AC and SC joints link the upper extremity to the axial skeleton at the thorax and enable movement at the shoulder joint: flexion, extension, and rotation of the arm.


Abnormal renal echogenicity

description: Anomalous echogenicity of the kidney on ultrasound examination.


Renal medullary hyperechogenicity

description: Increased echogenecity of the medullary region of the kidney.


Renal cortical hyperechogenicity

description: Increased echogenecity of the kidney cortex.


Abdominal adhesions

description: Fibrous bands (i.e., bands of scar-like tissue) that span two or more intra-abdominal organs and/or the inner abdominal wall (i.e. peritoneal membrane).


Lymph node abscess

description: An inflamed lymph node that is filled with pus.


name: Abnormal pulmonary alveolar system morphology

description: A structural abnormality of the pulmonary acinus, alveolar parenchyma, or alveoli.


Right atrial thrombus

description: A thrombus (i.e., a blood clot formed in situ within the vascular system) located in the right atrium of the heart.


name: Elevated circulating uracil concentration

description: Concentration of uracil in the blood circulation is above the normal range.


Blake's pouch cyst

description: The presence of an upwardly displaced normal cerebellar vermis, normal appearance of the fastigium, tentorium and size of the cisterna magna.


Severe SARS-CoV-2 infection

description: Unusually severe clinical course of SARS-CoV-2 infection, manifested clinically by features such as dyspnea and hypoxia with diffuse bilateral ground-glass opacities of the lungs on computed tomographic scan with progressive respiratory insufficiency necessitating oxygen supplementation or mechanical ventilation.


Long nasal bridge

description: Increased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose.


Jejunitis

description: Inflammation of the lining of the middle section of the small intestine.


name: Abnormal circulating ceruloplasmin concentration

description: Any deviation of the concentration of ceruloplasmin in the blood from the normal range.


name: Increased circulating ceruloplasmin concentration

description: Elevated concentration of ceruloplasmin in the blood circulation.


name: Elevated circulating methylsuccinic acid concentration

description: Increased concentration of methylsuccinic acid in the blood circulation.


name: Abnormal circulating short-chain fatty-acid concentration

description: Any deviation from the normal concentration of a short-chain fatty acid in the blood circulation.


name: Increased circulating isovaleric acid concentration

description: Increased concentration of isovaleric acid, a C5, branched-chain saturated fatty acid, in the blood concentration.


Intrahepatic bile duct dilatation

description: Increased diameter (caliber) of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts).


Anorectal abscess

description: An abscess located at the junction of the anal canal and the rectum.


Abnormal pharynx morphology

description: A structural anomaly of the pharynx.


Abnormal pharynx physiology

description: A functional anomaly of the pharynx.


name: Elevated circulating dodecenoylcarnitine concentration

description: An abnormally increased circulation of dodecenoylcarnitine, C12:1, in the blood circulation.


name: Elevated circulating deoxypyridinoline concentration

description: An increased concentration of lysyl-pyridinoline (deoxypyridinoline) cross-links in the blood circulation.


name: Elevated circulating L-alloisoleucine concentration

description: Abnormally increased concentration of L-alloisoleucine in the blood circulation.


Elevated urine L-alloisoleucine level

description: Abnormally increased level of L-alloisoleucine in the urine.


name: Elevated circulating 3-methylhistidine concentration

description: Abnormal increase of the concentration of 3-methylhistidine in the blood circulation.


name: Reduced respiratory ciliary beating frequency

description: An abnormal reduction in the number of beats per unit time of the respiratory cilia.


Reduced urinary inosine level

description: The amount of inosine in the urine, normalized for urine concentration, is below the lower limit of normal. Inosine is a purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond.


Decreased urinary guanosine level

description: The amount of guanosine in the urine, normalized for urine concentration, is below the lower limit of normal. Guanosine is a purine nucleoside in which guanine is attached to ribofuranose via a beta-N(9)-glycosidic bond.


Abnormal urinary purine level

description: Any deviation from the normal amount of a purine compound in the urine. Purines are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. Two of the four deoxyribonucleotides (deoxyadenosine and deoxyguanosine) and two of the four ribonucleotides (adenosine, or AMP, and guanosine, or GMP) are purines.


Abnormal urinary pyrimidine level

description: Any deviation from the normal amount of a pyrimidine compound in the urine. Pyrimidines and pyrimidine derivatives are compounds containing a pyrimidne ring, which is a six-member aromatic heterocycle which consists of two nitrogen atoms (at positions 1 and 3) and four carbon atoms. The nucleotides cytosine, thymine and uracil are pyrimidines.


Small intestinal bacterial overgrowth

description: An increased number and/or abnormal type of bacteria in the small bowel. Small intestinal bacterial overgrowth has been defined as the presence of greater than one hundred thousand bacteria (i.e. colony-forming units, CFU) per mL of proximal jejunal aspiration. The normal value is ten thousand or few CFU/ml.


Focal active colitis

description: Focal active colitis (FAC) is characterized by focal crypt damage caused by neutrophils. FAC is characterized by an inflammatory infiltrate consisting of intraepithelial neutrophils and/or neutrophils invading the lumen of the criptae, with no other microscopic alteration of the colonic mucosa and, in particular, without the presence of signs of chronic inflammation.


name: Recurrent viral upper respiratory tract infections

description: An increased susceptibility to viral upper respiratory tract infections as manifested by a history of recurrent viral upper respiratory tract infections (otitis, sinusitis, pharyngitis, tonsillitis).


Neutrophilic urticarial dermatosis

description: A neutrophilic interstitial, perivascular and/or perieccrine infiltrate with leukocytoclasia. Notably, leukocytoclastic vasculitis is not present.


Reduced mevalonate kinase activity

description: Abnormally reduced activity of mevalonate kinase, which is a key enzyme in the mevalonate biosynthetic pathway that leads to the synthesis of both cholesterol and nonsterol isoprenoids.


Reduced total lung capacity

description: Abnormally reduced volume of air in the lungs upon the maximum effort of inspiration.


Abnormal skinfold thickness measurement

description: Any deviation from the normal range of a skinfold thickness, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers.


Abnormal triceps skinfold thickness

description: Any deviation from the normal range of the thickness of the triceps skinfold, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers.


Increased triceps skinfold thickness

description: Increased thickness of the triceps skinfold, which is measured halfway down the back of the upper arm is increased.


name: Milky appearance of bronchoalveolar lavage fluid

description: Return of lavage fluid with a milky appearance due to the accumulation of a mixture of pulmonary surfactant, which is a lipoprotein complex, in the alveolar space.


Bloody bronchoalveolar lavage fluid

description: Return of lavage fluid characteristically has a bloody appearance in pulmonary alveolar hemorrhage. This is due to admixture of blood, which typically increases with each consecutive lavage portion. Microscopically erythrocytes can be seen. After 24 to 48 h macrophages contain phagocytosed erythrocytes, indicating previous bleeding.


name: Elevated circulating 5-oxoproline concentration

description: Concentration of L-pyroglutamic acid in the blood is above the upper limit of normal.


Submandibular lymph node enlargement

description: Increased size of the lymph nodes that are located beneath the mandible (lower jaw).


name: Elevated circulating suberic acid concentration

description: An increased concentration of suberic acid in the blood circulation. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane.


name: Increased circulating interleukin 8 concentration

description: An increased concentration of interleukin-8 in the circulation.


name: Elevated circulating aconitic acid concentration

description: Concentration of aconitic acid in the blood circulation above the upper limit of normal.