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. [PMID:28276060]


Neonatal electro-clinical non-motor seizure


Neonatal electro-clinical motor seizure is a type of neonatal electro-clinical seizure with predominant motor features. [PMID:28276060]


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. [PIMD:28276064]


Neonatal electroclinical myoclonic seizure

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). [PIMD:28276064]


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) wich occurs at multiple sites. [PIMD:28276064]


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. [PMID:28276064]


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. [PMID:28276064]


Neonatal bilateral clonic seizure is a type of neonatal electro-clinical clonic seizure where the clonic jerking is bilateral. [PMID:28276064]


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. [PMID:28276064]


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. [PMID:28276064]


Neonatal electro-clinical autonomic seizure

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. [PMID:28276064]


Neonatal electroclinical seizure with behavioural arrest

Neonatal electro-clinical seizure with behaviour arrest

Neonatal electro-clinical seizure with behavior arrest

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. [PMID:28276064]


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. [PMID:28276064]


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. [PMID:28276064]


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. [PMID:28276064]


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. [PMID:28276064]


Neonatal electroclinical motor seizure with automatism

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 awarness, and in association with other features. [PMID:28276060, PMID:28276064]


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. [PMID:28276060, PMID:28276064]


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. [PMID:28276064]


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) wich occurs at both sides of the body asymmetrically. [PMID:28276064]


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. [PMID:28276060]


Neonatal seizure with unilateral automatism

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 awarness, occurring at one side of the body. [PMID:28276060, PMID:28276064]


Neonatal seizure with bilateral symmetric automatism

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 awarness, occurring at both sides of the body symmetrically. [PMID:28276060, PMID:28276064]


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) wich occurs at both sides of the body symmetrically. [PMID:28276064]


Bilateral asymmetric neonatal sequential seizure

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. [PMID:28276064]


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. [PMID:28276064]


Bilateral symmetric neonatal sequential seizure

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. [PMID:28276064]


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. [PMID:28276064]


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. [PMID:28276064]


Generalised-onset epileptic spasm
Generalized onset epileptic spasm
Generalised onset epileptic spasm

A type of epileptic spasm of generalized onset. [PMID:28276060, PMID:28276064]


A type of epileptic spasm of focal onset. [PMID:11580774, PMID:28276060, PMID:28276064]


Focal impaired awareness epileptic spasm

A type of focal-onset epileptic spasm in which awareness is impaired at some point during the seizure. [PMID:11580774, PMID:28276060, PMID:28276064]


A type of focal-onset epileptic spasm in which awareness is preserved throughout the seizure. [PMID:11580774, PMID:28276060, PMID:28276064]


Focal motor seizure with negative myoclonus

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. [PMID:28276060]


Focal impaired awareness hemifacial clonic seizure

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. [PMID:28276060]


Focal aware cognitive seizure with neglect

A focal cognitive seizure with neglect characterized by retained awareness throughout the seizure. [PMID:28276060]


Aphasic status epilepticus is a type of focal non-convulsive status epilepticus without coma characterized by a cognitive (rather than motor) language deficit. [PMID:26336950]


Focal aware cognitive seizure with expressive dysphasia/aphasia

A focal cognitive seizure with expressive dysphasia / aphasia characterized by retained awareness throughout the seizure. [PMID:28276060]


Focal aware sensory seizure with visual features

A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis. [PMID:28276060]


Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia

A focal cognitive seizure with conduction dysphasia / aphasia characterized by impairment of awareness at some point during the seizure. [PMID:28276060]


Focal impaired awareness sensory seizure with hot-cold sensations

A focal sensory seizure with hot-cold sensations in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060]


Focal seizure characterized at onset by clonic movements affecting half of the face with retained awareness throughout. [PMID:11580774, PMID:28276060, PMID:28276064]


Photically induced myoclonic-tonic-clonic seizure

Generalised myoclonic-tonic-clonic seizure provoked by flashing or flickering light. [PMID:28276060]


A type of focal bilateral motor seizure during which awareness is fully retained throughout. [PMID:28276060]


Focal motor aware seizure with negative myoclonus

Focal aware motor seizure with negative myoclonus

A focal motor seizure with negative myoclonus characterized by retained awareness throughout the seizure. [PMID:28276060]


Focal motor impaired awareness seizure with negative myoclonus

Focal impaired awareness motor seizure with negative myoclonus

A focal motor seizure with negative myoclonus characterized by impairement of awareness at some point during the seizure. [PMID:28276060]


Focal motor impaired awareness seizure with paresis/paralysis

Focal impaired awareness motor seizure with paresis/paralysis

A focal motor seizure with paresis / paralysis characterized by impaired awareness at some point during the seizure. [PMID:28276060]


Focal non-convulsive status epilepticus with impairment of awareness

Focal non-convulsive status epilepticus with impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness is impaired. [PMID:28276060]


A type of focal motor status epilepticus characterized by prolonged ictal paresis or inhibitory motor seizures. [PMID:17116038, PMID:25667883, PMID:26336950]


Typical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged typical absence seizure. [PMID:26336950]


Focal aware sensory seizure with auditory features

A type of focal sensory seizure with auditory features during which awareness is retained throughout the seizure. [PMID:28276060]


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. [PMID:26336950]


A type of focal motor status epilepticus characterized by repetitive and rapid saccades, in association with epileptic discharges. [PMID:11967176, PMID:26336950, PMID:2912713]


Refractory status epilepticus is defined as status epilepticus continuing despite two appropriately selected and dosed antiepileptic drugs, including a benzodiazepine. [PMID:19817823]


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. [PMID:21914716]


Focal non-convulsive status epilepticus with retained awareness

Focal non-convulsive status epilepticus without impairment of awareness

Focal non-convulsive status epilepticus without impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness remains intact. [PMID:26336950]


Focal impaired awareness cognitive seizure with dyslexia/alexia

A focal cognitive seizure with dyslexia / alexia characterized by impairment of awareness at some point during the seizure. [PMID:28276060]


Focal aware cognitive seizure with hallucination

A focal cognitive seizure with hallucination characterized by retained awareness throughout the seizure. [PMID:28276060]


Focal impaired awareness cognitive seizure with illusion

A focal cognitive seizure with illusion characterized by impairment of awareness at some point during the seizure. [PMID:28276060]


Focal aware sensory seizure with cephalic sensation

A seizure characterized by a sensation in the head such as light-headedness or headache. [PMID:28276060]


Focal impaired awareness cognitive seizure with auditory agnosia

A focal cognitive seizure with auditory agnosia characterized by impairment of awareness at some point during the seizure. [PMID:28276060]


Focal aware cognitive seizure with conduction dysphasia/aphasia

A focal cognitive seizure with conduction dysphasia / aphasia characterized by retained awareness throughout the seizure. [PMID:28276060]


Focal aware sensory seizure with hot-cold sensations

A seizure characterized by sensations of feeling hot and then cold. [PMID:28276060]


Focal impaired awareness sensory seizure with cephalic sensation

A focal sensory seizure with cephalic sensation in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060]


Focal impaired awareness seizure with dissociation at onset

A focal cognitive seizure with dissociation at the onset of the seizure impairment of awareness at at some point during the seizure. [PMID:28276060]


Focal impaired awareness sensory seizure with auditory features

A focal sensory seizure with auditory features in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060]


Focal impaired awareness cognitive seizure with deja vu/jamais vu

A focal cognitive seizure with deja vu / jamais vu characterized by impairment of awareness at some point during the seizure. [PMID:28276060]


Focal aware cognitive seizure with deja vu/jamais vu

A focal cognitive seizure with deja vu / jamais vu characterized by retained awareness throughout the seizure. [PMID:28276060]


Focal aware sensory seizure with somatosensory features

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. [PMID:28276060]


Focal impaired awareness cognitive seizure with hallucination

A focal cognitive seizure with hallucination characterized by impairment of awareness at some point during the seizure. [PMID:28276060]


Focal impaired awareness cognitive seizure with expressive dysphasia/aphasia

A focal cognitive seizure with expressive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure. [PMID:28276060]


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. [PMID:28276060, PMID:28276064]


Focal impaired awareness cognitive seizure with forced thinking

A focal cognitive seizure with forced thinking characterized by impairment of awareness at some point during the seizure. [PMID:28276060]


Focal aware sensory seizure with gustatory features

A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes. [PMID:28276060]


Focal impaired awareness sensory seizure with somatosensory features

A focal sensory seizure with somatosensory features in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060]


A focal motor seizure with version characterized by retained awareness throughout the seizure. [PMID:28276060]


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. [PMID:28276060]


Afebrile (less than 38.0 degrees Celcius), brief, and generalized seizures accompanying gastroenteritis without an alternative cause. [PMID:12453597, PMID:29935410]


Seizure precipitated by febrile infection

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. [PMID:28276060]


Febrile seizure outside the age of 3 months to 6 years

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. [PMID:30078767, PMID:9126059]


Seizure precipitated by listening to music or other complex sounds. [PMID:11422340]


Focal impaired awareness sensory seizure with gustatory features

A focal sensory seizure with gustatory features in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060]


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. [PMID:11580774, PMID:28276060, PMID:28276064]


A type of focal automatism seizure characterized by orofacial automatisms at onset. [PMID:28276060]


A type of focal automatism seizure characterized by manual automatisms at onset. [PMID:28276060]


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. [PMID:28276060]


A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset. [PMID:28276060]


A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset. [PMID:28276060]


A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset. [PMID:28276060]


A type of focal automatism seizure characterized by involuntary sexual behavior at onset. [PMID:28276060]


A type of focal automatism seizure characterized by involuntary head nodding at onset. [PMID:28276060]


A type of focal automatism seizure characterized by involuntary undressing at onset. [PMID:28276060]


Focal aware undressing automatism seizure

A type of focal automatism seizure characterized by involuntary undressing at onset and during which awareness is fully retained throughout. [PMID:28276060]


Focal impaired awareness automatism seizure

A focal seizure with automatism in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060, PMID:28276064]


A type of focal automatism seizure during which awareness is fully retained throughout. [PMID:28276060]


Focal aware orofacial automatism seizure

A type of focal automatism seizure characterized by orofacial automatisms at onset and during which awareness is fully retained throughout. [PMID:28276060]


A type of focal automatism seizure characterized by manual automatisms at onset and during which awareness is fully retained throughout. [PMID:28276060]


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. [PMID:28276060]


Focal aware perseverative automatism seizure

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. [PMID:28276060]


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. [PMID:28276060]


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. [PMID:28276060]


A type of focal automatism seizure characterized by involuntary sexual behavior at onset and during which awareness is fully retained throughout. [PMID:28276060]


Focal impaired awareness orofacial automatism seizure

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. [PMID:28276060]


Focal aware head nodding automatism seizure

A type of focal automatism seizure characterized by involuntary head nodding at onset and during which awareness is fully retained throughout. [PMID:28276060]


Focal impaired awareness manual automatism seizure

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. [PMID:28276060]


Focal impaired awareness pedal automatism seizure

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. [PMID:28276060]


Focal impaired awareness perseverative automatism seizure

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. [PMID:28276060]


Focal impaired awareness vocal automatism seizure

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. [PMID:28276060]


Focal impaired awareness verbal automatism seizure

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. [PMID:28276060]


Focal impaired awareness sexual automatism seizure

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. [PMID:28276060]


Focal impaired awareness head nodding automatism seizure

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. [PMID:28276060]


Focal impaired awareness undressing automatism seizure

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. [PMID:28276060]


Definition: Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large calibre 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. [PMID:31182505]


Any abnormal structure of a chondrocyte, which is a polymorphic cell that forms cartilage. []


Concentric rings around the chondrocytes. [PMID:8571951]


Elevated circulating pancreatic triacylglycerol lipase activity

Increased circulating pancreatic triacylglycerol lipase level

An increased level of triacylglycerol lipase in the blood circulation (can be measured in serum or plasma). [PMID:28431198]


Unintentional reexperiencing a traumatic event comprising symptoms are usually sensory impressions and emotional responses from the trauma that appear to lack a time perspective and a context. [PMID:15487537]


Recurrent, involuntary and intrusive distressing memories

After suffering psychological trauma, people can repeatedly experience sensory-perceptual impressions of the event, which intrude involuntarily into consciousness. These intrusive memories typically take the form of visual images (e.g., pictures in the mind's eye), but can also include sounds, smells, tastes and bodily sensations, and come with a range of negative emotions associated with the hotspots in the trauma memory. [PMID:30293686]


Recurrent trauma-related distressing dreams

Recurrent distressing dreams in which the content and/or affect of the dream are related to the traumatic event or events. [PMID:17431265]


Marked physiological reactions to internal or external cues that symbolize or resemble an aspect of the traumatic event(s). [PMID:26611143]


Intense or prolonged psychological distress at exposure to internal or external cues that symbolize or resemble an aspect of the traumatic event or events. [PMID:17431265]


Avoidance of stimuli associated with traumatic event

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). [PMID:17431265]


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


Renal cortical interstitial inflammation

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


Renal medullary interstitial inflammation

Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells. [KPMP:arosenberg]


Renal interstitial calcium phosphate deposits

The presence of interstitial aggregates of purple finely granular/laminated calcium- and phosphate deposits. [KPMP:arosenberg, PMID:21804087]


Abnormal renal tubular luminal morphology

Abnormal structure or form of the lumen (opening) of kidney tubules. [PMID:23101152]


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. [PMID:21436288, PMID:29273157]


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. [PMID:7906246]


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 cytomegalovirus inclusions


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 numbersof neutrophils, with interstitial edema and hemorrhage. [KPMP:arosenberg, PMID:29273157]


Renal ltubular 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. []


Renal tubular herpes simplex virus inclusions

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. [KPMP:arosenberg, PMID:27884285]


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. [PMID:16362157]


Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney. [KPMP:arosenberg]


Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney. [KPMP:arosenberg]


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. []


Abnormal retention of gas within a lung or part of a lung, as a result of airway obstuction 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. [LMU:crapp, PMID:10524809, PMID:18195376, PMID:7972745]


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. [LMU:mgriese, PMID:18195376, PMID:3864189]


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

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. [LMU:kknoflach]


Abnormal bronchoalveolar lavage fluid morphology

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. [LMU:mgriese]


Abnormal cell differential of broncho-alveolar fluid

Abnormal cellular composition of bronchoalveolar fluid

Deviation from the commonly in healthy people observe cellular distribution. Normal ranghes are macrophages over 80%, lymphocytes less than 15%, neutrophils less than 3%, eosinophils less than 0.5%, mast cells less than 0.5%. [ISBN:0412792702, LMU:mgriese, PMID:10678650, PMID:3396403]


Abnormal biochemical composition of broncho-alveolar fluid

Abnormal level of proteins in the broncho-alveolar fluid

Abnormal bronchoalveolar fluid protein level

Any deviation from the normal concentration of protein in the bronchoalveolar fluid. []


Elevated bronchoalveolar lavage fluid lymphocyte proportion

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. [ISBN:0412792702, LMU:kknoflach, PMID:10678650, PMID:3396403]


Elevated level of neutrophils in broncho-alveolar lavage fluid

Elevated bronchoalveolar lavage fluid neutrophil proportion

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. [ISBN:0412792702, LMU:kknoflach, PMID:10678650, PMID:3396403]


Lipid-laden macrophages in bronchoalveolar fluid

Accumulation of lipids in alveolar macrophages with droplet-shaped fat inclusions. [ISBN:0412792702, LMU:kknoflach, PMID:11757629]


Accumulation of hemosiderin laden alveolar macrophages

Hemosiderin-laden macrophages in bronchoalveolar fluid

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). [LMU:mgriese, PMID:16871595, PMID:23678356, PMID:25515792, PMID:28166761]


Absent bronchoalveolar surfactant-protein C

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 diseaes, pathogenetically related to the alveolar surfactant region. [LMU:crapp, PMID:26375475]


Absent bronchoalveolar dimeric surfactant-protein B

Significantly decreased level or failed detection of surfactant protein B in broncho-alveolar lavage fluid. [LMU:kknoflach, PMID:26375475]


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 thicknes. A rare sign, it was initially reported to be specific for cryptogenic organizing pneumonia, but was subsequently described in patients with paracoccidioidomycosis. [LMU:crapp, PMID:10414267, PMID:15908556, PMID:22553298]


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. [ISBN:0412792702., LMU:mgriese]


Dust particle inclusion in alveolar macrophages

Accumulation of inhaled, nondigestable particles in macrophages. [ISBN:0412792702, LMU:mgriese, PMID:3740951]


Smoker-inclusions in alveolar macrophages

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. [ISBN:0412792702, LMU:mgriese]


Elevated bronchoalveolar lavage fluid eosinophil proportion

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. [ISBN:0412792702, LMU:mgriese, PMID:10678650, PMID:3396403]


Delayed ahcievement of the ability to roll front to back and back to front. []


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. [LMU:kknoflach]


An abnormal form or number of the pulmonary fissures. [LMU:mgriese]


An abnormal form or location of a pulmonary fissure. []


A deviation from the normal number of pulmonary fissures. []


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. []


Lack of one or more of the normal pulmonary fissures. []


Any deviation from the normal concentration of cystatin C in serum or plasma. [ORCID:0000-0002-8169-9049, PMID:24570004]


A decreased concentration of cystatin C in the blood circulation. [ORCID:0000-0002-8169-9049, PMID:24570004]


A elevated concentration of cystatin C in the blood circulation. [ORCID:0000-0002-8169-9049, PMID:24570004]


Abnormally high concentration of fecal porphyrins in feces. [ORCID:0000-0002-8169-9049, PMID:25372274]


A benign papillary neoplasm that arises endobronchially. It is classified as squamous cell, glandular, or mixed squamous cell and glandular papilloma. Patients usually present with signs and symptoms of bronchial obstruction.


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 caused by human papillomavirus (HPV). [PMID:17210977]


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. [LMU:mgriese, PMID:25489125]


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). []


Elevated faecal coproporphyrin 1
High stool coproporphyrin 1
Increased faecal coproporphyrin 1
High fecal coproporphyrin 1
Elevated stool coproporphyrin 1
High faecal coproporphyrin 1
Elevated fecal coproporphyrin 1

Abnormally high concentration of coproporphyrin 3 in feces. [ORCID:0000-0002-8169-9049, PMID:3327428]


Increased faecal coproporphyrin 3
High fecal coproporphyrin 3
Elevated faecal coproporphyrin 3
Elevated fecal coproporphyrin 3
High faecal coproporphyrin 3
High stool coproporphyrin 3
Elevated stool coproporphyrin 3

Abnormally high concentration of coproporphyrin 3 in feces [ORCID:0000-0002-8169-9049, PMID:3327428]


Abnormal salivary metabolite concentration

Any deviation from the normal concentration of a metabolite in saliva. []


Any deviation from the normal concentration of cortisol in saliva. [ORCID:0000-0002-8169-9049, PMID:18280810, PMID:19602555]


Abnormally reduced concentration of cortisol in saliva. [ORCID:0000-0002-8169-9049, PMID:18280810, PMID:19602555]


Abnormally elevated concentration of cortisol in saliva. [ORCID:0000-0002-8169-9049, PMID:18280810, PMID:19602555]


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


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


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


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


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


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


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


Chronic (near) absent total IgG in blood

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


A small circumscribed whitish change in the color of the oral mucosa that is neither elevated nor depressed. [PMID:23762643]


The presence of autoantibodies in the serum that react to the histidyl-tRNA-synthetase. [LMU:kknoflach, PMID:26210509]


Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells. [ORCID:0000-0002-0736-9199]


Any morphological abnormality of the cervical vertebral column. []


Abnormal proportion of circulating T-helper cells

Abnormal proportion of helper T cells relative to the total number of T cells. [http://orcid.org/0000-0001-7941-2961]


Elevated helper T cell proportion
Increased proportion T-helper cells

Increased proportion of helper T cells relative to the total number of T cells. [http://orcid.org/0000-0001-7941-2961]


Increased proportion of effector memory CD8-positive, alpha-beta T cells, terminally differentiated

Increased proportion of CD8-positive, alpha-beta TEMRA T cells

An increased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative. [PMID:15838378]


Decreased proportion effector memory CD8-positive, alpha-beta T cells, terminally differentiated

Decreased proportion of CD8-positive, alpha-beta TEMRA T cells

An decreased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative. [PMID:15838378]


Abnormal proportion of CD4-positive helper T cells

An abnormal proportion of circulating CD4-positive helper T cells relative to total T cell count. []


Abnormal proportion of gammadelta T cells

Abnormal proprotion of gamma-delta T lymphocytes

Abnormal proportion of gamma-delta T-lymphocytes

Abnormal proportion of gamma-delta T cells relative to the total number of T cells. [http://orcid.org/0000-0001-7941-2961]


Increased proportion of gamma-delta T lymphocytes

Increased proportion of gamma-delta T-cells

Increased proportion of gammadelta T cells

Elevated proportion of gamma-delta T cells

Increased proportion of gamma-delta T-lymphocytes

Increased proportion of gamma-delta T cells relative to the total number of T cells. [http://orcid.org/0000-0001-7941-2961]


Decreased proportion of gamma-delta T-lymphocytes

Reduced proportion of gamma-delta T cells

Decreased proportion of gammadelta T cells

Decreased proportion of gamma-delta T lymphocytes

Decreased proportion of gamma-delta T-cells

Decreased proportion of gamma-delta T cells relative to the total number of T cells. [http://orcid.org/0000-0001-7941-2961]


Abnormal proportion of immature gamma-delta T lymphocytes

Abnormal proportion of immature gamma-delta T-lymphocytes

Abnormal proportion of immature gamma-delta T-cells

Abnormal proportion of immature gamma-delta T cells relative to the total number of T cells. [http://orcid.org/0000-0001-7941-2961]


Increased proportion of immature gamma-delta T-cells

Increased proportion of immature gamma-delta T-lymphocytes

Increased proportion of immature gamma-delat T lymphocytes

Elevated proportion of immature gamma-delta T cells

Increased proportion of immature gamma-delta T cells relative to the total number of T cells. [http://orcid.org/0000-0001-7941-2961]


Reduced proportion of immature gamma-delta T cells

Decreased proportion of immature gamma-delta T-cells

Decreased proportion of immature gamma-delta T-lymphocytes

Decreased proportion of immature gamma-delta T lymphocytes

Decreased proportion of immature gamma-delta T cells relative to the total number of T cells. [http://orcid.org/0000-0001-7941-2961]


The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney. [PMID:23221343]


A pebbly orange appearance of the fundus that is said to resemble the skin of an orange. [PMID:25526100]


Tonic status epilepticus is a type of status epilepticus characterized by focal or bilateral limb stiffening or elevation, which may be electrographically generalized or focal. [ORCID:0000-0002-1735-8178, PMID:26336950]


Rupture of the tendons in the ROTATOR CUFF of the shoulder joint due to injury.


Abnormality of the rectum
Anomaly of the rectum

An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus. [HPO:probinson]


High blood arginine levels
Increased blood arginine concentration

An increased amount of arginine levels in the blood. [http://orcid.org/0000-0001-7941-2961]


High urine histidine levels
Elevated histidine in urine

An increased concentration of histidine in the urine. [HPO:probinson, PMID:18901181, PMID:20240447]


Decreased circulating level of specific antibody

The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against a specific antigen or microorganism. [HPO:probinson, PMID:17100769]


Turricephalus
Tall shaped head
Tower cranium shape
Tower skull shape
Tall shaped skull
Tall shaped cranium

Tall head relative to width and length. [PMID:19125436]


Abnormal feet structure
Abnormality of the foot
Abnormality of the feet

An abnormality of the skeleton of foot. [HPO:probinson]


Abnormality in area between air sacs in lung


Inlet ventricular septal defect
Type 3 ventricular septal defect

A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus. [DDD:dbrown, PMID:17101870]

Atrioventricular canal type ventricular septal defect


A partial or complete breakage of the phalanx. []


Elevated levels of proline-containing dipeptides in urine. [PMID:9196362]


Hearing loss, sensorineural, bilateral, progressive

Progressive bilateral sensorineural hearing loss

Bilateral progressive sensorineural hearing loss


Periventricular neuronal heterotopia
Subependymal gray matter heterotopia
Periventricular heterotopia
Subependymal grey matter heterotopia
Periventricular gray matter heterotopia
Subependymal neuronal heterotopia

A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass. [HPO:probinson, PMID:22427329]


Isovalericacidemia
Increased circulating isovalerate

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

Increased circulating isovaleric acid concentration


Bilateral congenital sensorineural deafness


Detection of PAS-positive extracellular material in broncho-alveolar lavage

Accumulation of amorphous PAS-positive material in the space betweem alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis. [HPO:probinson, PMID:21900000, PMID:22891182]


Chilblain-like toes
Chilblain-like toe lesions
COVID toe

A self-limited dermatologic manifestation seen on the toes of some patients with COVID-19 that resembles chilblains (perniosis). The lesions may be pink, red, blue or purple and have a similar appearance to frostbite. It appears to resolve once the infection has been cleared.


Abnormality of musculoskeletal physiology

An abnormality of the function of the skeletal system. [HPO:probinson]


An abnormally elevated concentration of total tryptase (alpha and beta tryptase) in the blood circulation. [PMID:16372800, PMID:19522836, PMID:25169217, PMID:27749843, PMID:3295549]


Anti-U1-RNP antibody positivity
Anti-RNP-antibodies

Anti-U1 ribonucleoprotein antibody positivity

The presence autoantibodies in the serum that react to proteins (70 Kd, A, C) that are associated with U1 RNA and form U1snRNP. [LMU:chrapp, PMID:15804705, PMID:29796907]


Anti-glomerular basement membrane-antibody positivity

The presence of autoantibodies in the serum that react to the glomerular basement membrane. [LMU:kknoflach, PMID:20660402]


Applies to a sign or symptom that is induced by an abusive adult (usually a parent). [LMU:chrapp, PMID:29938745]


Increased level of anti-melanoma differentiation-associated protein 5 antibodies

The presence of autoantibodies in the serum that react to Anti-MDA5 (Anti-melanoma differentiation-associated proteine 5). [LMU:kknoflach, PMID:32270621]


Anti-citrullinated protein antibody positivity

The presence autoantibodies in the serum that react do different citrullinated antigens, including filaggrin, fibrinogen, vimentin and collagen. [LMU:mgriese, PMID:21713412, PMID:27824549]


Abnormal neurilemmocyte morphology
Abnormal neurilemmal cell morphology

Abormality of schwann cells, glial cells that ensheath axons of neurons in the peripheral nervous system and are necessary for their maintenance and function. [ORCID:0000-0002-9553-7227, PMID:31760652]


The presence of autoantibodies in the serum that react to RNA-polymerase III. [LMU:chrapp, PMID:31858335]


Increased level of antigen-precipitating IgG antibodies

The presence of high titers of antigen-precipitating IgG in the serum. [LMU:chrapp, PMID:22796841, PMID:26310038]


The presence of autoantibodies in the serum that react to seven proteins that consist of a core of small nuclear ribonucleoprotein (snRNP) particles. [LMU:kknoflach, PMID:31552434]


Any structural anomaly of the fetal part of the placenta, which is known as the chorion. [PMID:18755720]


A palpable swelling in both feet and ankles caused by palpable swelling caused by an increase in interstitial fluid volume (excess fulid). []


Low signal intensity in the substantia nigra on susceptibility-weighted imaging (SWI)

Substantia nigra hypointensity on susceptibility-weighted imaging

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


Globus pallidus hypointensity on susceptibility-weighted imaging

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


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. [PMID:29416935]


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. [HPO:nvasilevsky, NCIT:C121469, PMID:26039846]


Impaired ability to bring order to information, actions, or materials to achieve a goal or to follow an established organized routine. [HPO:nvasilevsky, NCIT:C121469, PMID:26039846]


Decreased serum terminal complement component

Reduced level 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. [PMID:26841934]


A reduced level of the complement component C6 in the blood circulation. [PMID:10632667]


A reduced level of the complement component C5 in the blood circulation. [PMID:23371790]


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. [PMID:19846852]


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. []


A tendency to sleep less hours than usual while feeling well rested. [PMID:31473062]


Renal interstitial globotriaosylceramide inclusions

Accumulation of globotriaosylceramide (GL-3) in kidney tissues, which can be quantified as the number of globotriaosylceramide (GL-3) inclusions/kidney interstitial capillary (KIC). [PMID:32606714]


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). [PMID:30571025]


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). [PMID:30571025]


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 colour. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance. [PMID:8671802]


Renal interstitial IgG4+ plasma cell infiltration

An increased number of IgG4+ plasma cells in the interstitial space of the kidney. [PMID:21719792, PMID:29359118]


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. [NCIT:C121466, PMID:26039846]


Impaired ability to keep track of one's problem-solving success or failure, and to identify and correct mistakes during performance of a goal. [NCIT:C121470, PMID:26039846]


Anomalous physical appearance (color, cloudiness, clarity) or odor of urine. []


Abnormal circulating free thyroxine level

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. [PMID:30725738]


An elevated concentration of free thyroxine (fT4) in the blood circulation. []


A reduced concentration of free thyroxine (fT4) in the blood circulation. []


Absence or underdevelopment of the thyroid gland. []


Abnormal TSH response to TRH stimulation test

Abnormal TSH response to thyrotrophin-releasing hormone stimulation test

Thyrotrophin-releasing hormone (TRH) is a hypothalamic tripeptide synthesised 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 reponse in the TRH stimulation test. []


Absent TSH response to thyrotrophin-releasing hormone stimulation test

Failure to increase serum TSH levels in response to a TRH stimulation test. [PMID:29935915]


Reduced TSH response to thyrotrophin-releasing hormone stimulation test

A lower than normal TSH response to thyrotrophin-releasing hormone stimulation test. []


Increased circulating farnesol concentration

An elevated level of farnesol in the blood circulation. [PMID:29909962]


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. []


A count of antral follicles that is lower than normal for age. [PMID:30010909]


A count of antral follicles that is higher than normal for age. [PMID:32656532]


An increased level of a branched chain family amino acid in the urine. []


Increased aromatic amino acid level in urine

An elevated level of an aromatic amino acid in the urine. []


An increase in the level of succinate in the urine. [PMID:32942769]


Increased glutamine family amino acid level in urine

An elevated level of an glutamine family amino acid in the urine. []


An increased concentration of glutamate in the urine. []


Increased sulphur amino acid level in urine

Increased sulfur-containing amino acid level in urine

Increased sulfur amino acid level in urine

An elevated level of a sulfur-containing amino acid in the urine. []


Increased aspartate family amino acid level in urine

An elevated level of an aspartate family amino acid in the urine. []


Increased urine proteinogenic amino acid derivative level

An elevated urine level of a compound that is derived from an amino acid. []


Elevated urinary non-proteinogenic amino acid level

Increased urinary non-proteinogenic amino acid level

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


Increased serine family amino acid in urine

An increased level of a serine family amino acid in the urine. []


Increased proteinogenic amino acid level in urine

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. []


An abnormally increased level of aconitic acid in the urine. [PMID:30830355]


Elevated circulating chitinase 3-like 1 level

Increased concentration of chitinase 3-like 1 (CHI3L1) in the blood circulation. [PMID:18182077, PMID:7577068]


Failure to develop fever in the presence of an infection that normally would be expected to elicit a febrile response. [PMID:31235509]


Abnormal circulating proteinogenic amino acid concentration

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. []


Abnormal circulating proteinogenic amino acid derivative concentration

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


Abnormal circulating non-proteinogenic amino acid concentration

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. []


Elevated circulating homoalanine concentration

Elevated circulating alpha-aminobutyric acid concentration

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. [PMID:30561103]


Increased urine 3-hydroxyisovaleric acid level

Concentration of 3-hydroxyisovaleric acid in the urine above the normal range. [PMID:29844061]


Elevated apolipoprotein C-III level
Elevated APOC3 level

Elevated circulating apolipoprotein C-III concentration

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. [ORCID:0000-0002-9553-7227, PMID:12006394]


A type of gallop rhytm in which both the third and the fourth sounds are present. [PMID:15886379]


Abnormally increased concentration of tenascin-C in the blood circulation. [PMID:30442110]


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. [PMID:16679353]


Anomalous physiology (function) of the right ventricle. []


Elevated right ventricular systolic pressure

Elevation of right ventricular systolic pressure (RVSP) above normal limits. In adults, RVSP is normally 20-30 mmHg. [PMID:18619825]


Abnormally increased level of osteopontin in the blood circulation [PMID:12574077, PMID:15705633]


An increased level of sorbitol in the blood circulation. [PMID:32367058]


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. []


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. []


Anomalous echogenicity of the kidney on ultrasound examination. [PMID:24235286]


Increased echogenecity of the medullary region of the kidney. [PMID:24235286]


Increased echogenecity of the kidney cortex. [PMID:24235286]


Abnormal pulmonary alveolar system morphology

A structural abnormality of the pulmonary acinus, alveolar parenchyma, or alveoli. [LMU:mgriese]


Elevated circulating uracil concentration

Concentration of uracil in the blood circulation is above the normal range. []


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. [PMID:32706371]


Abnormal circulating ceruloplasmin concentration

Any deviation of the concentration of ceruloplasmin in the blood from the normal range. [PMID:32119309]


Increased circulating ceruloplasmin concentration

Elevated concentration of ceruloplasmin in the blood circulation. [PMID:32119309]


Elevated circulating methylsuccinic acid concentration

Increased concentration of methylsuccinic acid in the blood circulation. [PMID:29909962]


Abnormal circulating short-chain fatty-acid concentration

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


Elevated plasma dodecenoylcarnitine concentration

Elevated circulating dodecenoylcarnitine concentration

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


Elevated circulating deoxypyridinoline concentration

An increased concentration of lysyl-pyridinoline (deoxypyridinoline) cross-links in the bloood circulation. [PMID:12661898]


Elevated circulating L-alloisoleucine concentration

Abnormally increased concentration of L-alloisoleucine in the blood circulation. [PMID:10508118, PMID:28919799]


Abnormally increased level of L-alloisoleucine in the urine. [PMID:28919799]


Elevated circulating 3-methylhistidine concentration

Abnormal increase of the concentration of 3-methylhistidine in the blood circulation. [PMID:6780020]


Dminished respiratory ciliary beat frequency

Reduced respiratory ciliary beating frequency

An abnormal reduction in the number of beats per unit time of the respiratory cilia. [PMID:10722772]


Decreased level of inosine in urine. Inosine is a purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond. [PMID:402573]


Decreased level of guanosine in urine. Guanosine is a purine nucleoside in which guanine is attached to ribofuranose via a beta-N(9)-glycosidic bond. []


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. []


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. []


Recurrent viral upper respiratory tract infections

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). [PMID:30422556]


A neutrophilic interstitial, perivascular and/or perieccrine infiltrate with leukocytoclasia. Notably, leukocytoclastic vasculitis is not present. [PMID:32490121]


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. [ORCID:0000-0003-3411-9598, PMID:27499643]


Abnormally reduced volume of air in the lungs upon the maximum effort of inspiration. [PMID:28194273]


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. [PMID:7492193]


Any deviation from the normal range of the thickness of the tricpes skinfold, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers. [PMID:27669294]


Increased thickness of the triceps skinfold, which is measured halfway down the back of the upper arm is increased. [PMID:27669294]


Milky appearance of bronchoalveolar lavage fluid

Return of lavage fluid with a milky apperance due to the accumulation of a mixture of pulmonary surfactant, which is a lipoprotein complex, in the alveolar space. [LMU:mgriese, PMID:26110014, PMID:28771412]


Return of lavage fluid characteristically has a bloody apperance 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. [LMU:mgriese]


Elevated circulating L-pyroglutamic acid concentration

Elevated circulating 5-oxoproline concentration

Concentration of L-pyroglutamic acid in the blood is above the normal range. [PMID:8789605]


Elevated circulating suberic acid concentration

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. []


Increased serum interleukin-8
Increased serum interleukin 8
Increased serum IL-8

Increased circulating interleukin 8 concentration

An increased concentration of interleukin-8 in the circulation. [PMID:15831231]


Elevated circulating aconitic acid concentration

An increased concentration of aconitic acid in the blood circulation. []


An increase in concentration of cathepsin D in the blood circulation. [PMID:26995190]


Triggered by Epstein Barr virus infection

Applies to a sign or symptom that is provoked or brought about by infection by the Epstein-Barr virus. [PMID:19425169]


The term is commonly used to describe a putative abnormal location of pulmonary vein branches adjacent to pulmonary arteries within the same adventitial sheath. However, evidence has been provided that the vessels in question are not pulmonary veins, however represent dilated bronchial veins. [PMID:19500772, PMID:25052575, PMID:27071622]


Long dental root
Root gigantism
Rhizomegaly

Tooth root length more than 2 SD above mean, or subjectively apparently increased tooth root length. [PMID:29574060, PMID:31468724]


Cutaneous hyperpigmentation with overlying hypertrichosis

A large nonpalpable spot of the skin over 1 cm in dimension with increased pigmentation and increased hair growth. [PMID:18410979]


Increased circulating selenium concentration

An increased concentration of selenium in the blood circulation. [PMID:25519493]


Decreased circulating selenium concentration

An abnormally reduced concentration of selenium in the blood circulation. [PMID:25519493]


Swelling of the hepatocyte, rounding of its contour, and alteration of the cytoplasm, which takes on a reticulated, rarified, or flocculant quality. The cytoplasm of the ballooned hepatocytes often contains clumps of eosinophilic ropey material known as Mallory-Denk bodies (MDBs) or Mallory hyaline, which is composed of hyperphosphorylated misfolded intermediate filaments, ubiquitin, and ubiquitin-binding protein P62. [PMID:31603713, PMID:31885839]


Infiltration of inflammatory cells in lobules of the liver. A focus of lobular inflammation can be defined as two or more inflammatory cells (neutrophils, lymphocytes and other mononuclear cells, eosinophils and microgranulomas) within the lobule present within the sinusoids or surrounding injured hepatocytes (ballooned or apoptotic hepatocytes). [PMID:31583739]


Applies to a sign or symptom that is provoked or brought about by infection by a virus. []


Increased circulating interleukin 10 concentration

An elevation of the concentration of interleukin 10 in the blood circulation. [PMID:18424693]


Reduced intensity of the brachioradialis tendon reflex. [PMID:32119424]


Increased intensity of the brachioradialis reflex. [PMID:32119424]


Increased intensity of the triceps reflex. [PMID:30285397]


Increased intensity of the biceps reflex. [PMID:30285397]


Hyperactive ankle jerk reflex
Hyperactive ankle reflex

Increased intensity of the Achilles reflex. [PMID:30285397]


Increased proportion autoreactive unresponsive CD21-/low B cells

Increased proportion relative to B-lymphocytes of a subset of B lymphocytes characterized by dim/low levels of CD21, i.e., CD21-/low, in flow cytometry, and additionally enriched in autoreactive clones as determined for instance by clonse showing rheumatoid factor (anti-IgG) reactivity and antibodies recognizing cytoplasmic and to a lesser extent nuclear structures. [PMID:26119182]


An increased in the level of suberic acid in the urine above the normal range. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane. [PMID:6466694]


Increased susceptibility to viral pneumonia, as manifested by recurrent episodes of viral pneumonias. [PMID:27427983]


A developmental defect characterized by the absence of the putamen owing to its failure to develop. [PMID:31412107]


A cruciform-shaped hyperintensity within the pons found on T2-weighted magnetic resonance imaging (MRI). [PMID:25886304]


A temporary reduction beneath the normal level of total immunoglobulin G4 (IgG4) in the blood circulation. []


A lasting decrease of immunoglobulin G4 (IgG4) in the blood. []


A lasting absence of immunoglobulin G4 (IgG4) in the blood, whereby at most trace quantities of IgG4 can be measured. []


Chronic partially decreased IgG4 in blood

Chronic partially decreased circulating IgG4

A lasting limited decrease of immunoglobulin G4 (IgG4) in the blood. []


A temporary reduction beneath the normal level of total immunoglobulin G2 (IgG2) in the blood circulation. []


A lasting decrease of immunoglobulin G2 (IgG2) in the blood. []


A lasting absence of immunoglobulin G2 (IgG2) in the blood, whereby at most trace quantities of IgG2 can be measured. []


Chronic partially decreased IgG2 in blood

Chronic partially decreased circulating IgG2

A lasting limited decrease of immunoglobulin G2 (IgG2) in the blood. []


A temporary reduction beneath the normal level of total immunoglobulin G1 (IgG1) in the blood circulation. []


A lasting decrease of immunoglobulin G1 (IgG1) in the blood. []


A lasting absence of immunoglobulin G1 (IgG1) in the blood, whereby at most trace quantities of IgG1 can be measured. []


Chronic partially decreased IgG1 in blood

Chronic partially decreased circulating IgG1

A lasting limited decrease of immunoglobulin G1 (IgG1) in the blood. []


A temporary reduction beneath the normal level of total immunoglobulin G3 (IgG3) in the blood circulation. []


A lasting decrease of immunoglobulin G3 (IgG3) in the blood. []


A lasting absence of immunoglobulin G3 (IgG3) in the blood, whereby at most trace quantities of IgG3 can be measured. []


Chronic partially decreased IgG3 in blood

Chronic partially decreased circulating IgG3

A lasting limited decrease of immunoglobulin G3 (IgG3) in the blood. []


Abnormal immunoglobulin level in body fluid

An abnormal deviation from normal levels of immunoglobulins in body fluids, such as mucous. []


Increased immunoglobulin level in body fluid

An elevation from normal levels of immunoglobulins in body fluids, such as mucous. []


Decreased immunoglobulin level in body fluid

An reduction from normal levels of immunoglobulins in body fluids, such as mucous. []


The percentage of fat as a part of total body weight below the norm, usually defined as less than 14% for females and less than 8% for males. [http://pennshape.upenn.edu/, ORCID:0000-0002-9553-7227]


Abnormal proportion of exhausted T cells

A deviation from the normal proportion of exhausted T cell relative to T cell in the blood. [PMID:31570879]


A fracture of the cervical vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging. []


A fracture of the lumbar vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging. []


A fractured in which a fragment of the humerus tears away from the main mass of bone as a result of physical trauma. []


A fractured in which a fragment of the tibia tears away from the main mass of bone as a result of physical trauma. []


A fractured in which the fragment of the epiphysis of femur bone tears away from the main mass of bone as a result of physical trauma. []


A partial or complete breakage of the metaphysis of femur. []


A partial or complete breakage of the right clavicle. []


A partial or complete breakage of the left clavicle. []


A partial or complete breakage of the lower limb segment. []


A partial or complete breakage of the upper limb segment. []


A partial or complete breakage of the metacarpus skeleton. []


Fractured epiphysis of fifth metacarpal bone

A partial or complete breakage of the epiphysis of fifth metacarpal bone. []


A partial or complete breakage of the clavicle bone. []


A partial or complete breakage of the acetabular part of hip bone. []


A partial or complete breakage of the navicular bone of pes. []


A partial or complete breakage of the sternoclavicular joint. []


A partial or complete breakage of the elbow joint. []


A partial or complete breakage of the manual digit. []


A partial or complete breakage of the fused sacrum. []


A partial or complete breakage of the distal phalanx of manus. []


A partial or complete breakage of the middle phalanx of pes. []


Fractured distal phalanx of manual digit 2

A partial or complete breakage of the distal phalanx of manual digit 2. []


Fractured distal phalanx of manual digit 3

A partial or complete breakage of the distal phalanx of manual digit 3. []


Fractured distal phalanx of manual digit 4

A partial or complete breakage of the distal phalanx of manual digit 4. []


Fractured distal phalanx of manual digit 5

A partial or complete breakage of the distal phalanx of manual digit 5. []


Fractured distal phalanx of pedal digit 1

A partial or complete breakage of the distal phalanx of pedal digit 1. []


Fractured distal phalanx of pedal digit 3

A partial or complete breakage of the distal phalanx of pedal digit 3. []


Fractured middle phalanx of manual digit 2

A partial or complete breakage of the middle phalanx of manual digit 2. []


Fractured middle phalanx of manual digit 3

A partial or complete breakage of the middle phalanx of manual digit 3. []


Fractured middle phalanx of manual digit 4

A partial or complete breakage of the middle phalanx of manual digit 4. []


Fractured middle phalanx of manual digit 5

A partial or complete breakage of the middle phalanx of manual digit 5. []


Fractured middle phalanx of pedal digit 3

A partial or complete breakage of the middle phalanx of pedal digit 3. []


Fractured proximal phalanx of pedal digit 1

A partial or complete breakage of the proximal phalanx of pedal digit 1. []


Fractured proximal phalanx of manual digit 1

A partial or complete breakage of the proximal phalanx of manual digit 1. []


bone epiphysis of second metacarpal bone

Fractured epiphysis of second metacarpal bone

A partial or complete breakage of the epiphysis of second metacarpal bone. []


Fractured epiphysis of third metacarpal bone

A partial or complete breakage of the epiphysis of third metacarpal bone. []


bone epiphysis of fourth metacarpal bone

Fractured epiphysis of fourth metacarpal bone

A partial or complete breakage of the epiphysis of fourth metacarpal bone. []


Fractured epiphysis of first metatarsal bone

A partial or complete breakage of the epiphysis of first metatarsal bone. []


bone epiphysis of second metatarsal bone

Fractured epiphysis of second metatarsal bone

A partial or complete breakage of the epiphysis of second metatarsal bone. []


Fractured epiphysis of third metatarsal bone

A partial or complete breakage of the epiphysis of third metatarsal bone. []


A partial or complete breakage of the distal epiphysis of radius. []


bone proximal epiphysis of first metacarpal bone

Fractured proximal epiphysis of first metacarpal bone

A partial or complete breakage of the proximal epiphysis of first metacarpal bone. []


bone proximal epiphysis of middle phalanx of manual digit 3

Fractured proximal epiphysis of middle phalanx of manual digit 3

A partial or complete breakage of the proximal epiphysis of middle phalanx of manual digit 3. []


A partial or complete breakage of the interphalangeal joint. []


bone epiphysis of middle phalanx of manus

Fractured epiphysis of middle phalanx of manus

A partial or complete breakage of the epiphysis of middle phalanx of manus. []


A partial or complete breakage of the lateral malleolus of fibula. []


A partial or complete breakage of the proximal phalanx of digit 3. []


A partial or complete breakage of the proximal phalanx of digit 4. []


A partial or complete breakage of the proximal phalanx of digit 5. []


A partial or complete breakage of the fused metatarsal bones 2-4. []


bone distal epiphysis of distal phalanx of manual digit 1

Fractured distal epiphysis of distal phalanx of manual digit 1

A partial or complete breakage of the distal epiphysis of distal phalanx of manual digit 1. []


A partial or complete breakage of the metatarsal bone of digit 5. []


A partial or complete breakage of the manual digit bone. []


A partial or complete breakage of the metacarpal bone of digit 1. []


A partial or complete breakage of the distal tarsal bone 2. []


A partial or complete breakage of the distal tarsal bone 3. []


A partial or complete breakage of the metatarsal bone of digit 4. []


A partial or complete breakage of the metatarsal bone of digit 1. []


A partial or complete breakage of the hindlimb bone. []


A partial or complete breakage of the middle phalanx of manus. []


A partial or complete breakage of the manual digit 1 phalanx. []


A partial or complete breakage of the phalanx of pes. []


A partial or complete breakage of the phalanx of manus. []


A partial or complete breakage of the proximal phalanx of manus. []


A partial or complete breakage of the shoulder bone. []


A partial or complete breakage of the proximal phalanx of digit 2. []


A partial or complete breakage of the distal tarsal bone. []


A reduced level of the complement component C7 in the blood circulation. [PMID:17407100]


Enlargment of mitochondria. Mitochondrial hypertrophy is not discernible by light microscopy. By electron microscopy (EM), hypertrophic mitochondria have normal cristae and normal matrix density. In contrast, swollen mitochondria display swollen cristae and irregular matrix densities in EM. [PMID:32715519]


Failure of a fertilized oocyte to undergo the first round of cell division. [PMID:32502391]


A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increaed proportion of sperm that move in tight circles or in some other non-linear fashion. [PMID:8957699]


Congenital pulmonary airway malformation type 2 originates in the bronchiolar regions and is the second most frequent type, comprising 15-25% of cases. It may be associated with other types of renal or cardiac anomalies. Usually, it presents as multiple small cysts less than 2cm in diameter. The prognosis is good with no malignant potential.

Type 2 congenital pulmonary airway malformation


Congenital pulmonary airway malformation type 3 originates in the bronchiolar regions and may involve an entire lobe, compressing other lobes. It comprises 10% of all cases and the lesions may be solid not cystic and are less than 5mm in diameter. The prognosis is good with no malignant potential; however, there is typically an absence of pulmonary arteries within the lesion.

Type 3 congenital pulmonary airway malformation


Congenital pulmonary airway malformation type 1 is the commonest type, comprising about 70% of all cases. The cysts in this type are usually located within a single lobe and lined with columnar epithelium. There are often 1 or 2 large cysts up to 10cm in size which may be surrounded by smaller cysts.

Type 1 congenital pulmonary airway malformation


Sagittal clefting of vertebrae
Anterior rachischisis

A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray. [HPO:probinson, PMID:31448202, PMID:3693103]


A benign sweat gland neoplasm usually occurring in the scalp or the face. It may present as solitary or multiple papular or nodular lesions. It may be a sporadic lesion or part of Brooke-Spiegler syndrome. It arises from the dermis and has a multinodular, circumscribed appearance. The nodules contain basaloid cells with small, dark nuclei. Complete excision is usually curative.


Multiple intervertebral disc calcifications

Multiple intervertebral disk calcifications


Small corpus callosum
Thinning of the corpus callosum

An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration). [ORCID:0000-0002-1735-8178]


A benign focal growth composed of vascular tissue.


a persistent and generalized livedo reticularis


A type of lipoid pneumonia in which the source of the lipids is external to the body. [LMU:mgriese, PMID:20028911]


Abnormal pulmonary interstitial morphology

Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis. [HPO:probinson]


Motormental retardation
Psychomotor retardation
Psychomotor impairment


The abnormal collection of fluid in the peritoneal cavity resulting in ascites.


Complete or almost complete absence of enamel. [PMID:31468724]


A benign testicular cyst that is located in the epididymis, and which contains serous fluid, lymphocytes, spermatozoa, and debris.


A broncholith, a calcified peribronchial lymph node that erodes into an adjacent bronchus, is most often the consequence of Histoplasma or tuberculous infection. The imaging appearance is of a small calcific focus in or immediately adjacent to an airway, most frequently the right middle lobe bronchus. Broncholiths are readily identified on CT scans. Distal obstructive changes may include atelectasis, mucoid impaction, and bronchiectasis [PMID:18195376]


Growth hormone deficiency
Somatotropin deficiency

Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests. [HPO:probinson, PMID:25914878]

Decreased response to growth hormone stimulation test


Metabolic crises during febrile infections


Filling of the alveoli with desquamated epithelial cells


Intra-alveolar accumulation of macrophages


An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells. [HPO:probinson]


Abnormal thickening of the skin on the palms and soles with an honeycomb pattern. [PMID:9326323]


Affective aura
Affective auras
Emotional aura

Affective auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context. [HPO:probinson]


The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA. [PMID:15804704]


Abnormalities of the glomerular capillary wall


Ground-glass opacification
Ground glass opacities

A CT scan finding in the lungs indicating the presence of hazy areas of attenuation in the air spaces. It is caused by interstitial fibrosis, alveolar collapse, edema, inflammation, or cancer with lepidic spread.


Fixation off sensitivity (FOS) is characterized by posterior or generalized epileptiform discharges that consistently occur with conditions that eliminate central vision, such as closed eyes, complete darkness, modified Ganzfeld stimulation (using a large white surface without visual cues), and Frenzel lenses. The FOS electroencephalogram (EEG) pattern usually consists of spikes/polyspikes and waves localized in occipital regions (bilateral or unilateral) or generalized discharges. It is usually inhibited by fixation of gaze, observing patterns, or intermittent photic stimulation (e.g., flashing light or patterns used as stimuli during the recording of the EEG). [ORCID:0000-0002-1735-8178, PMID:22925838, PMID:24099056]


Steroid-sensitive nephrotic syndrome with infrequent relapses

A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of one relapse (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response, or one to three relapses in any 12-month period. [ORCID:0000-0002-2234-4248, PMID:29910038]


Steroid-sensitive nephrotic syndrome with frequent relapses

A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of two or more relapses (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response or four or more relapses in any 12-month period. [ORCID:0000-0002-2234-4248, PMID:29910038]


Lamellation of the glomerular basement membrane

Lamellated/basket-woven thickened glomerular basement membranes

Glomerular basement membrane lamellation

Presence of abnormal additional layers of the basement membrane of the glomerulus. [KPMP:arosenberg, PMID:10199473, PMID:12089752]


Septal thickening (pulmonary CT finding)

Interlobular lines (pulmonary CT finding)

Presence of thickening of the interlobular septa of the lungs as seen on a CT scan. [NIHR:ldaugherty, PMID:23247773]


Anti-pyruvate dehydrogenase antibody positivity


The presence of autoantibodies in the blood circulation that react against La/SSB autoantigens. [ORCID:0000-0002-4095-8489, PMID:15804706, PMID:27431345]


Elevated circulating acetone concentration

An increased level of acetone in the blood circulation. Acetone is one of the predominant ketone bodies. [PMID:28278308]


Neonatal electroclinical sequential seizure

Neonatal electro-clinical sequential seizure

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. [PMID:28276064]


Anti-U3 ribonucleoprotein antibody positivity


Obliterative abnormality of the renal glomerulus


Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus. Distribution can include vascular pole, perihilar, tip or neither tip, perihilar or vascular. [KPMP:arosenberg]


Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the vascular pole/perihilum. [KPMP:arosenberg]


Glomerular hyalinosis at the tubular pole

Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the tip/tubular pole. [KPMP:arosenberg]


Glomerular hyalinosis away from the vascular and tubular poles

Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at neither tip nor perihilar/vascular poles. Both the vascular and the tubular pole are present in the glomerular cross section. [KPMP:arosenberg]


Elevated urinary 2-methylbutyrylglycine
Elevated urinary 2-ethylhydracylic acid

An increased concentration of 2-ethylhydracylic acid in the urine. [PMID:15615815]


Abnormal glomerular parietal epithelial cell morphology

Any structural abnormality of the parietal epithelial cells that line the inside of Bowman's capsule and form an inconspicuous sheet of flat epithelial cells in continuity with the proximal tubular epithelial cells at the urinary pole and with the podocytes at the vascular pole. [KPMP:arosenberg, PMID:28361304]


Hyperplasia of the glomerular parietal epithelial cell

Glomerular parietal epithelial cell hyperplasia

Increased number of parietal epithelial cells lining Bowman's capsule. Hyperplasia leads to the cells being present in 2 or more layers, often with crowding and multilayering. [KPMP:arosenberg]


Hypertrophy of the glomerular parietal epithelial cell

Glomerular parietal epithelial cell hypertrophy

An abnormality of the glomerular parietal epithelial cells characterized by (1) Increased parietal epithelial cell size, with or without cytoplasmic protein droplets; or (2) enlarged nuclei with prominent nucleoli. Both features can be present [KPMP:arosenberg]


Capsular hyaline drops within Bowman's capsule

An insudative accumulation of amorphous, eosinophilic, periodic acid-Schiff (PAS)-positive, silver-negative material protruding from Bowman's capsule into the urinary space. Although not always evident by light microscopy, this material is located between Bowman's capsule and the parietal epithelial cells, in some cases associated with newly formed matrix material. [KPMP:arosenberg, PMID:32866505]


An area of basement membrane continuity between the glomerular tuft and Bowman's capsule, without intervening crescent and not adjacent to an area of segmental sclerosis. [KPMP:arosenberg, PMID:32866505]


Inability to elicit triceps tendon reflex. []


Inability to elicit brachioradialis tendon reflex. []


Inability to elicit biceps tendon reflex. []


Abnormal glomerular mesangial cellularity

Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney. [KPMP:arosenberg]


Abnormal glomerular mesangial matrix morphology

Any structural anomaly of the glomerular matrix. Mesangial cells generate and embed in their own extracellular matrix. The mesangial matrix is different in composition from the glomerular basement membrane. Its constituents are type IV collagen (but only the alpha1 and alpha2 chains); type V collagen; laminin A, B1, and B2; and considerable amounts of fibronectin, heparan sulfate and chondroitin sulfate proteoglycans, entactin, and nidogen. Furthermore, small amounts of the proteoglycans decorin and biglycan are found in the mesangial matrix. [KPMP:arosenberg, PMID:19470685]


Mesangial immune deposit located adjacent to the paramesangial glomerular basement membrane. [KPMP:arosenberg, PMID:32866505]


Extracellular mesangial accumulation of moderately electron-dense, generally homogenous, amorphous-appearing extracellular material. []


A failure to sustain attention that requires self-motivation to optimize performance. [PMID:21128132]


Detachment of visceral epithelial cells
Podocyte detachment

Detachment of visceral epithelial cells (podocytes) from underlying glomerular basement membrane with intervening new loose basement membrane material (pale on Hematoxylin and eosin, periodic acid-Shiff, trichrome, or silver stain) forming a so-called 'halo'. [KPMP:arosenberg, PMID:32866505]


Cytoplasmic projections into the urinary space from the luminal side of the podocyte. [KPMP:arosenberg, PMID:32866505]


Layer of hypertrophied visceral epithelial cells overlying a sclerosed segment of the tuft of the glomerulus. []


An increase in the ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and (3) body plethysmography. An elevated RV/TLC can be interpreted as a sign of air trapping and hyperinflation. [LMU:kknofloch, PMID:12934788]


Hyperinflation on pulmonary function test


Overinflation on pulmonary function test


An elevation of the total count of alveoli as determined by microscopic point-counting of randomly taken lung sections, not secondary to abnormalities in number, size and structure of the airways. In polyaveolar lobe, the number of alveoli is generally increased three to fivefold. [PMID:7463297]