NirvanamKnowledge · Cases · Solver

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Browse canonical concepts by label, domain, node type, prefix and encoded class.

653 results

Current membership scope: Any direct membership

ConceptNode typeBase domainMatched membershipIdentifier
Epilepsy, Temporal Lobe
A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the TEMPORAL LOBE, most commonly from…
DisorderPathologyNervous System [curated_secondary]AMW:DIS:100247
Epilepsy, Tonic-Clonic
A generalized seizure disorder characterized by recurrent major motor seizures. The initial brief tonic phase is marked by trunk flexion followed by …
DisorderPathologyNervous System [curated_secondary]AMW:DIS:100256
Epileptic Syndromes
EPILEPTIC SEIZURES that are of similar type and age of onset and have other similar features (e.g., clinical course, EEG findings, genetic associatio…
SyndromePathologyNervous System [curated_secondary]AMW:DIS:100260
Esotropia
A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a cross-eye appearance. An example of this c…
DisorderPathologyNervous System [curated_secondary]AMW:DIS:100359
Essential Tremor
A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, induci…
DisorderPathologyNervous System [curated_secondary]AMW:DIS:100314
Exotropia
A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as…
DisorderPathologyNervous System [curated_secondary]AMW:DIS:100360
Eye Burns
Injury to any part of the eye by extreme heat, chemical agents, or ultraviolet radiation.
Traumatic DisorderPathologyNervous System [curated_secondary]AMW:DIS:100657
Eye Foreign Bodies
Inanimate objects that become enclosed in the eye.
Traumatic DisorderPathologyNervous System [curated_secondary]AMW:DIS:100659
Eye Injuries
Damage or trauma inflicted to the eye by external means. The concept includes both surface injuries and intraocular injuries.
Traumatic DisorderPathologyNervous System [curated_secondary]AMW:DIS:100654
Eye Injuries, Penetrating
Deeply perforating or puncturing type intraocular injuries.
Traumatic DisorderPathologyNervous System [curated_secondary]AMW:DIS:100660
Fabry Disease
An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation…
Congenital DisorderPathologyNervous System [curated_secondary]AMW:DIS:100097
Facial Injuries
General or unspecified injuries to the soft tissue or bony portions of the face.
Traumatic DisorderPathologyNervous System [curated_secondary]AMW:DIS:100653
Farber Lipogranulomatosis
A sphingolipidosis subtype that is characterized by the histological appearance of granulomatous deposits in tissues. It results from the accumulatio…
Congenital DisorderPathologyNervous System [curated_secondary]AMW:DIS:100098
Fasciculation
Involuntary contraction of the muscle fibers innervated by a motor unit. Fasciculations may be visualized as a muscle twitch or dimpling under the sk…
Pathologic ConditionPathologyNervous System [curated_secondary]AMW:DIS:100522
Femoral Neuropathy
Disease involving the femoral nerve. The femoral nerve may be injured by ISCHEMIA (e.g., in association with DIABETIC NEUROPATHIES), nerve compressio…
DisorderPathologyNervous System [curated_secondary]AMW:DIS:100588
Focal Cortical Dysplasia
Abnormal, non-neoplastic cell proliferation of the CEREBRAL CORTEX confined to an area in any lobe. Focal cortical dysplasia in the temporal lobe is …
Pathologic ConditionPathologyNervous System [curated_secondary]AMW:DIS:100390
Foveomacular Retinitis
A photochemical injury to retina tissues, usually at the RETINAL PIGMENT EPITHELIUM. It is commonly associated with sungazing, eclipse viewing, weldi…
Inflammatory DisorderPathologyNervous System [curated_secondary]AMW:DIS:100658
Fragile X Syndrome
A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypi…
SyndromePathologyNervous System [curated_secondary]AMW:DIS:100491
Friedreich Ataxia
An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior col…
Congenital DisorderPathologyNervous System [curated_secondary]AMW:DIS:100160
Frontotemporal Dementia
The most common clinical form of FRONTOTEMPORAL LOBAR DEGENERATION, this dementia presents with personality and behavioral changes often associated w…
Degenerative DisorderPathologyNervous System [curated_secondary]AMW:DIS:100232
Frontotemporal Lobar Degeneration
The label is process-shaped, but the organ-specific concept may also function as a disorder; manual semantic review is required.
Pathological processPathologyNervous System [curated_secondary]AMW:PROC:135075
Fucosidosis
An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose contain…
Congenital DisorderPathologyNervous System [curated_secondary]AMW:DIS:100093
Gait Apraxia
Impaired ambulation not attributed to sensory impairment or motor weakness. FRONTAL LOBE disorders; BASAL GANGLIA DISEASES (e.g., PARKINSONIAN DISORD…
Pathologic ConditionPathologyNervous System [curated_secondary]AMW:DIS:100448
Gait Ataxia
Impairment of the ability to coordinate the movements required for normal ambulation (WALKING) which may result from impairments of motor function or…
Pathologic ConditionPathologyNervous System [curated_secondary]AMW:DIS:100436
Gait Disorders, Neurologic
Gait abnormalities that are a manifestation of nervous system dysfunction. These conditions may be caused by a wide variety of disorders which affect…
Pathologic ConditionPathologyNervous System [curated_secondary]AMW:DIS:100447
Galactosemias
A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This condition may be associated with deficiencies of GA…
Congenital DisorderPathologyNervous System [curated_secondary]AMW:DIS:100079
Gangliosidoses
A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDES. They are caused by impaired enzymes or defecti…
Congenital DisorderPathologyNervous System [curated_secondary]AMW:DIS:100099
Gangliosidoses, GM2
A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes inclu…
Congenital DisorderPathologyNervous System [curated_secondary]AMW:DIS:100100
Gangliosidosis, GM1
An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal ac…
Congenital DisorderPathologyNervous System [curated_secondary]AMW:DIS:100104
Gaucher Disease
An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycos…
Congenital DisorderPathologyNervous System [curated_secondary]AMW:DIS:100105