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

715 results

Current membership scope: Domain and all descendants

ConceptNode typeBase domainMatched membershipIdentifier
Neuromuscular Manifestations
Signs and symptoms associated with diseases of the muscle, neuromuscular junction, or peripheral nerves.
Pathologic ConditionPathologyNeurology [curated_secondary]AMW:DIS:100521
Neuromyelitis Optica
A syndrome characterized by acute OPTIC NEURITIS; MYELITIS, TRANSVERSE; demyelinating and/or necrotizing lesions in the OPTIC NERVES and SPINAL CORD;…
Inflammatory DisorderPathologyNeurology [curated_secondary]AMW:DIS:100012
Neuronal Ceroid-Lipofuscinoses
A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUS…
Congenital DisorderPathologyNeurology [curated_secondary]AMW:DIS:100417
Neurotoxicity Syndromes
Neurologic disorders caused by exposure to toxic substances through ingestion, injection, cutaneous application, or other method. This includes condi…
SyndromePathologyNeurology [curated_secondary]AMW:DIS:100618
Niemann-Pick Disease, Type A
The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPH…
Congenital DisorderPathologyNeurology [curated_secondary]AMW:DIS:100107
Niemann-Pick Disease, Type B
An allelic disorder of TYPE A NIEMANN-PICK DISEASE, a late-onset form. It is also caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE but clinical …
Congenital DisorderPathologyNeurology [curated_secondary]AMW:DIS:100108
Niemann-Pick Disease, Type C
An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the…
Congenital DisorderPathologyNeurology [curated_secondary]AMW:DIS:100109
Niemann-Pick Diseases
A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be …
Congenital DisorderPathologyNeurology [curated_secondary]AMW:DIS:100106
Nocturnal Myoclonus Syndrome
Excessive periodic leg movements during sleep that cause micro-arousals and interfere with the maintenance of sleep. This condition induces a state o…
SyndromePathologyNeurology [curated_secondary]AMW:DIS:100639
Nocturnal Paroxysmal Dystonia
A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur …
DisorderPathologyNeurology [curated_secondary]AMW:DIS:100642
Nodding Syndrome
Unexplained neurologic condition characterized by episodes of atonic seizures, convulsions or staring spells with further cognitive decline.
SyndromePathologyNeurology [curated_secondary]AMW:DIS:100257
Nystagmus, Congenital
Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with ALBINISM a…
Congenital DisorderPathologyNeurology [curated_secondary]AMW:DIS:100352
Nystagmus, Pathologic
Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a c…
DisorderPathologyNeurology [curated_secondary]AMW:DIS:100351
Ocular Motility Disorders
Disorders that feature impairment of eye movements as a primary manifestation of disease. These conditions may be divided into infranuclear, nuclear,…
Functional DisorderPathologyNeurology [curated_secondary]AMW:DIS:100316
Oculocerebrorenal Syndrome
A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenita…
SyndromePathologyNeurology [curated_secondary]AMW:DIS:100116
Oculomotor Nerve Diseases
Diseases of the oculomotor nerve or nucleus that result in weakness or paralysis of the superior rectus, inferior rectus, medial rectus, inferior obl…
DisorderPathologyNeurology [curated_secondary]AMW:DIS:100353
Oculomotor Nerve Injuries
Traumatic injuries to the OCULOMOTOR NERVE. This may result in various eye movement dysfunction.
Traumatic DisorderPathologyNeurology [curated_secondary]AMW:DIS:100343
Olfaction Disorders
Impaired ability to smell. This may be caused by OLFACTORY NERVE DISEASES; PARANASAL SINUS DISEASES; viral RESPIRATORY TRACT INFECTIONS; CRANIOCEREBR…
Pathologic ConditionPathologyNeurology [curated_secondary]AMW:DIS:100555
Olfactory Nerve Diseases
Diseases of the first cranial (olfactory) nerve, which usually feature anosmia or other alterations in the sense of smell and taste. Anosmia may be a…
DisorderPathologyNeurology [curated_secondary]AMW:DIS:100361
Olfactory Nerve Injuries
Traumatic injuries to the OLFACTORY NERVE. It may result in various olfactory dysfunction including a complete loss of smell.
Traumatic DisorderPathologyNeurology [curated_secondary]AMW:DIS:100344
Olivary 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:135077
Olivopontocerebellar Atrophies
A group of inherited and sporadic disorders which share progressive ataxia in combination with atrophy of the CEREBELLUM; PONS; and inferior olivary …
Congenital DisorderPathologyNeurology [curated_secondary]AMW:DIS:100036
Ophthalmoplegia
Paralysis of one or more of the ocular muscles due to disorders of the eye muscles, neuromuscular junction, supporting soft tissue, tendons, or inner…
Pathologic ConditionPathologyNeurology [curated_secondary]AMW:DIS:100357
Ophthalmoplegia, Chronic Progressive External
A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-r…
Metabolic DisorderPathologyNeurology [curated_secondary]AMW:DIS:050256
Ophthalmoplegic Migraine
Childhood-onset of recurrent headaches with an oculomotor cranial nerve palsy. Typically, ABDUCENS NERVE; OCULOMOTOR NERVE; and TROCHLEAR NERVE are i…
Pathologic ConditionPathologyNeurology [curated_secondary]AMW:DIS:100270
Optic Atrophies, Hereditary
Hereditary conditions that feature progressive visual loss in association with optic atrophy. Relatively common forms include autosomal dominant opti…
Congenital DisorderPathologyNeurology [curated_secondary]AMW:DIS:100364
Optic Atrophy
Atrophy of the optic disk which may be congenital or acquired. This condition indicates a deficiency in the number of nerve fibers which arise in the…
Degenerative DisorderPathologyNeurology [curated_secondary]AMW:DIS:100363
Optic Atrophy, Autosomal Dominant
Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color vision deficits, a centrocecal scotoma, and optic nerv…
Degenerative DisorderPathologyNeurology [curated_secondary]AMW:DIS:100365
Optic Atrophy, Hereditary, Leber
A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The…
Degenerative DisorderPathologyNeurology [curated_secondary]AMW:DIS:100366
Optic Disk Drusen
Optic disk bodies composed primarily of acid mucopolysaccharides that may produce pseudopapilledema (elevation of the optic disk without associated I…
DisorderPathologyNeurology [curated_secondary]AMW:DIS:100367