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

715 results

Current membership scope: Any direct membership

ConceptNode typeBase domainMatched membershipIdentifier
Frontotemporal Dementia
The most common clinical form of FRONTOTEMPORAL LOBAR DEGENERATION, this dementia presents with personality and behavioral changes often associated w…
Degenerative DisorderPathologyNeurology [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 processPathologyNeurology [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 DisorderPathologyNeurology [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 ConditionPathologyNeurology [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 ConditionPathologyNeurology [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 ConditionPathologyNeurology [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 DisorderPathologyNeurology [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 DisorderPathologyNeurology [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 DisorderPathologyNeurology [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 DisorderPathologyNeurology [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 DisorderPathologyNeurology [curated_secondary]AMW:DIS:100105
Gerstmann Syndrome
A disorder of cognition characterized by the tetrad of finger agnosia, dysgraphia, DYSCALCULIA, and right-left disorientation. The syndrome may be de…
SyndromePathologyNeurology [curated_secondary]AMW:DIS:100508
Giant Axonal Neuropathy
Rare autosomal recessive disorder of INTERMEDIATE FILAMENT PROTEINS. The disease is caused by mutations in the gene that codes gigaxonin protein. The…
Congenital DisorderPathologyNeurology [curated_secondary]AMW:DIS:100385
Giant Cell Arteritis
A systemic autoimmune disorder that typically affects medium and large ARTERIES, usually leading to occlusive granulomatous vasculitis with transmura…
Inflammatory DisorderPathologyNeurology [curated_secondary]AMW:DIS:100025
Glossopharyngeal Nerve Diseases
Diseases of the ninth cranial (glossopharyngeal) nerve or its nuclei in the medulla. The nerve may be injured by diseases affecting the lower brain s…
DisorderPathologyNeurology [curated_secondary]AMW:DIS:100349
Glossopharyngeal Nerve Injuries
Traumatic injuries to the GLOSSOPHARYNGEAL NERVE.
Traumatic DisorderPathologyNeurology [curated_secondary]AMW:DIS:100341
Glycogen Storage Disease Type II
An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate i…
Congenital DisorderPathologyNeurology [curated_secondary]AMW:DIS:100094
Glycogen Storage Disease Type IIb
An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene enc…
Congenital DisorderPathologyNeurology [curated_secondary]AMW:DIS:100492
Glycogen Storage Disease Type VII
An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1…
Congenital DisorderPathologyNeurology [curated_secondary]AMW:DIS:050266
Guillain-Barre Syndrome
An acute inflammatory autoimmune neuritis caused by T cell- mediated cellular immune response directed towards peripheral myelin. Demyelination occur…
Immune DisorderPathologyNeurology [role_derived]AMW:DIS:100019
Hallucinations
Subjectively experienced sensations in the absence of an appropriate stimulus, but which are regarded by the individual as real. They may be of organ…
Pathologic ConditionPathologyNeurology [curated_secondary]AMW:DIS:100511
Hand-Arm Vibration Syndrome
An occupational disorder resulting from prolonged exposure to vibration, affecting the fingers, hands, and forearms. It occurs in workers who regular…
SyndromePathologyNeurology [curated_secondary]AMW:DIS:100586
Hartnup Disease
An autosomal recessive disorder due to defective absorption of NEUTRAL AMINO ACIDS by both the intestine and the PROXIMAL RENAL TUBULES. The abnormal…
Congenital DisorderPathologyNeurology [curated_secondary]AMW:DIS:100080
Head Injuries, Closed
Traumatic injuries to the cranium where the integrity of the skull is not compromised and no bone fragments or other objects penetrate the skull and …
Traumatic DisorderPathologyNeurology [curated_secondary]AMW:DIS:100668
Head Injuries, Penetrating
Head injuries which feature compromise of the skull and dura mater. These may result from gunshot wounds (WOUNDS, GUNSHOT), stab wounds (WOUNDS, STAB…
Traumatic DisorderPathologyNeurology [curated_secondary]AMW:DIS:100671
Heavy Metal Poisoning, Nervous System
Conditions associated with damage or dysfunction of the nervous system caused by exposure to heavy metals, which may cause a variety of central, peri…
Toxic DisorderPathologyNeurology [curated_secondary]AMW:DIS:100622
Hematoma, Epidural, Cranial
Accumulation of blood in the EPIDURAL SPACE between the SKULL and the DURA MATER, often as a result of bleeding from the MENINGEAL ARTERIES associate…
Pathologic ConditionPathologyNeurology [curated_secondary]AMW:DIS:100208
Hematoma, Epidural, Spinal
A rare epidural hematoma in the spinal epidural space, usually due to a vascular malformation (CENTRAL NERVOUS SYSTEM VASCULAR MALFORMATIONS) or TRAU…
Pathologic ConditionPathologyNeurology [curated_secondary]AMW:DIS:230146
Hematoma, Subdural
Accumulation of blood in the SUBDURAL SPACE between the DURA MATER and the arachnoidal layer of the MENINGES. This condition primarily occurs over th…
Pathologic ConditionPathologyNeurology [curated_secondary]AMW:DIS:100209
Hematoma, Subdural, Acute
Accumulation of blood in the SUBDURAL SPACE with acute onset of neurological symptoms. Symptoms may include loss of consciousness, severe HEADACHE, a…
Pathologic ConditionPathologyNeurology [curated_secondary]AMW:DIS:100210