NIF-Dysfunction (formally BIRNLex-Disease)
type: Ontology
imports: nif backend.ttl
definition: This ontology contains the former BIRNLex-Disease, version 1.3.2. -- The BIRN Project lexicon will provide entities for data and database annotation for the BIRN project, covering anatomy, disease, data collection, project management and experimental design. It is built using the organizational framework provided by the foundational Basic Formal Ontology (BFO). It uses an abstract biomedical layer on top of that - OBO-UBO which has been constructed as a proposal to the OBO Foundry. This is meant to support creating a sharable view of core biomedical objects such as biomaterial_entity, and organismal_entity that all biomedical ontologies are likely to need and want to use with the same intended meaning. The BIRNLex biomaterial entities have already been factored to separately maintained ontology - BIRNLexBiomaterialEntity.owl which this BIRNLex-Main.owl file imports. The Ontology of Biomedical Investigation (OBI) is also imported and forms the foundation for the formal description of all experiment-related artifacts. The BIRNLex will serve as the basis for construction of a formal ontology for the multiscale investigation of neurological disease.
editorial note: ID use: 2086, 2104; 12500 - 12831
editorial note: next ID: birnlex_12832
editorial note: Using birnlex IDs starting with 12500.
version info: 1.5 (December, 2012)
contributor: Amarnath Gupta
contributor: Bill Bug
contributor: Carol Bean
contributor: Christine Fennema-Notestine
contributor: David Kennedy
contributor: Fahim Imam
contributor: Jeff Grethe
contributor: Jessica Turner
contributor: Maryann Martone
creator: The BIRN Ontology Task Force
subject: The BIRN project lexicon
default language: en
history note: v1.3.1 - moved disease from BIRNLex-Other to to this stand-alone module. (BB: 2007-10-05) v1.4 (May 2012) - Addition of DOID as an imported module. Addition of a bridging module that assigns equivalencies between DOID and NIF-Dysfunction classes. v1.5 (December 2012) - Additional classes from NeuroLex: Neuropathy, Giant axonal neuropathy etc. and some hierarchical changes. Importing the newer version of doid <http://purl.obolibrary.org/obo/doid/2012-12-07/doid.owl> v1.6 (January 2013) - Additional classes from NeuroLex: Traumatic brain injury.
history note: v1.3.2 - moved neuro diseases under Nervous system disease class and added eye and multisystem diseases (BB: 2007-11-18).
history note: v1.3.3 - added all three variants as synonyms for the disease names (or their synonyms) with (or sometimes without) an apostrophe (’s), e.g., “Batten disease”, “Batten’s disease” and “Battens disease” are kept as synonymous terms. (Fahim Imam: April 14, 2009)

Neurodegenerative disease
type: Class
synonym: Degenerative Neurologic Disease
synonym: Degenerative Neurologic Disorder
synonym: Nervous System Degenerative Disease
synonym: Neurodegenerative Disorder
synonym: Neurologic Degenerative Condition
definition: Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures. (MeSH).
subclass of: Nervous system disease
editorial note: Note BIRNLex seeks to evolve a core subsumptive disease hierarchy based first on the effected function, then the effected structure, the latter for those categories of nervous system disease that have typically been associated with structural abnormalities or trauma (e.g., Motor neuron diseases, cerebrovascular trauma, etc.). Disease causation is in fact the ultimate goal of much biomedical research, and our recognitition of ALL the driving causes of a particular disease - and the ways in which these causes inter-relate with each other and with effected structures to cause a change in normal function is a critical representational task BIRNlex will increasingly take on to provide an evolving, nuanced functional reconstruction of disease as a process and an outcome. These relations will be represented using OWL ObjectProperties. Function is the most sensible context to drive the asserted subsumptive hierarchy for representing nervous system disease, since it is with the clinical description of altered, impaired, decreased, or lost function that the diagnosis - and the research - of disease is rooted. Much has already been described regarding both the effected biomaterial entities and the causes of disease. However, it is because understanding of such relations still is far from comprehensive, that biomedical investigation into nervous system disease continues. Finally, given the "realist" ontology design approach being used to construct BIRNLex, function must be represented as inhering in some biomaterial entity from molecules and their controlling elements on up through gross anatomical structures. Over time, BIRNLex will provide the required relations to depict these functionally-related structures for both the normal and pathological function of the nervous system. This will be true both for the causes and for the outcomes of nervous system disease. Initial work to extend this expressive representation will focus on the neurodegenerative diseases being studied by …
created date: 2006-07-15
modified date: 2007-11-18
has birnlex curator: BIRN OTF
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D019636
nif ID: _8.3_2

Alzheimers disease
type: Class
synonym: Alzheimer Dementia
synonym: Alzheimer disease
synonym: Alzheimer Senile Dementia
synonym: Alzheimer Type Dementia
synonym: Alzheimer Type Senile Dementia
synonym: Alzheimer's
synonym: Alzheimer's Dementia
synonym: Alzheimer's disease
synonym: Alzheimers
abbrev: AD
subclass of: Tauopathy
created date: 2006-04-04
modified date: April 11, 2009
birnlex definition: A neurodegenerative disease resulting in the insidious onset of dementia. Impairment of memory, judgement, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (adapted from MSH)
defining citation: Adams et al., Principles of Neurology, 6th ed, pp1049-57
defining citation URI: http://www.ninds.nih.gov/disorders/alzheimersdisease/alzheimersdisease.htm
has birnlex curator: BIRN OTF
has curation status: curation complete
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D000544
nif ID: _8.3_2.1
putative class extension: Acute Confusional Senile Dementia
putative class extension: Early Onset Alzheimer Disease
putative class extension: Focal Onset Alzheimer's Disease
putative class extension: Late Onset Alzheimer Disease
putative class extension: Presenile Dementia
putative class extension: Primary Senile Degenerative Dementia
umls cui: C0002395
usage note: MeSH includes implied subtypes based mostly on chronological time of onset

Parkinsons disease
type: Class
synonym: Idiopathic PD
synonym: Paralysis Agitans
synonym: Parkinson disease
synonym: Parkinson syndrome
synonym: Parkinson's
synonym: Parkinson's disease
synonym: Parkinson's syndrome
synonym: Parkinsonian disorder
synonym: Parkinsons
subclass of: Neurodegenerative disease
created date: 2007-03-05
modified date: June 24, 2009
acronym: PD
birnlex definition: * A disease characterized as a progressive motor disability manifested by tremors, shaking, muscular rigidity, and lack of postural reflexes. (PSY) * A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75) (MSH) * progressive, degenerative disorder of the nervous system characterized by tremors, rigidity, bradykinesia, postural instability, and gait abnormalities; caused by a loss of neurons and a decrease of dopamine in the basal ganglia. (CSP)
defining citation URI: http://www.ninds.nih.gov/disorders/parkinsons_disease/parkinsons_disease.htm
has birnlex curator: Bill Bug
has definition source: UMLS defSource
nif ID: _8.3_2.7
putative class extension: Idiopathic Parkinson Disease
putative class extension: Lewy Body Parkinson Disease
putative class extension: Primary Parkinsonism
umls cui: C0030567
usage note: MeSH includes several implied subtypes based primarily on causation

Schizophrenia
type: Class
synonym: Dementia Praecox
synonym: Schizophrenic Disorder
subclass of: Psychotic Disorder
created date: 2006-06-01
modified date: 2007-10-08
externally sourced definition: A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, hallucinations, emotional disharmony, and regressive behavior. (MeSH)
has birnlex curator: Jessica Turner
has curation status: uncurated
has external source: UMLS
nif ID: _8.3_11.6
umls cui: C0036341

Disease
type: Class
subclass of: BFO_0000016

Huntingtons disease
type: Class
synonym: Chronic Progressive Hereditary Chorea (Huntington)
synonym: Huntington Chronic Progressive Hereditary Chorea
synonym: Huntington disease
synonym: Huntington's
synonym: Huntington's Chorea
synonym: Huntington's disease
definition: A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea.
subclass of: Neurodegenerative disease
created date: 2007-10-05
modified date: April 11, 2009
acronym: HD
defining citation: Adams et al., Principles of Neurology, 6th ed, pp1060-4
defining citation URI: http://www.ninds.nih.gov/disorders/huntington/huntington.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D006816
nif ID: _8.3_2.10

Autistic Disorder
type: Class
synonym: Autism
synonym: Early Infantile Autism
synonym: Infantile Autism
synonym: Kanner's Syndrome
subclass of: Pervasive Development Disorder
created date: 2007-10-01
modified date: 2007-10-08
defining citation: DSM-IV
defining citation URI: http://www.ninds.nih.gov/disorders/autism/autism.htm
has birnlex curator: Bill Bug
has curation status: uncurated
nif ID: _8.3_11.7

Lewy Body Disease
type: Class
definition: A neurodegenerative disease characterized by dementia, mild parkinsonism, and fluctuations in attention and alertness. The neuropsychiatric manifestations tend to precede the onset of bradykinesia, MUSCLE RIGIDITY, and other extrapyramidal signs. DELUSIONS and visual HALLUCINATIONS are relatively frequent in this condition. Histologic examination reveals LEWY BODIES in the CEREBRAL CORTEX and BRAIN STEM. SENILE PLAQUES and other pathologic features characteristic of ALZHEIMER DISEASE may also be present.
subclass of: Neurodegenerative disease
created date: 2007-10-05
modified date: 2007-10-05
acronym: LBD
defining citation: Neurology 1997;48:376-380; Neurology 1996;47:1113-1124
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020961
nif ID: _8.3_2.9
usage note: There are two MeSH terms for this general term that indicate there are infact subtypes of Lewy Body Disease (i.e., Diffuse Lewy Body Disease; Cortical Lewy Body Disease)

Akinetic-Rigid Variant of Huntington Disease
type: Class
synonym: Akinetic-Rigid Variant of Huntington's Disease
synonym: Akinetic-Rigid Variant of Huntingtons Disease
synonym: Huntington Disease, Akinetic-Rigid Variant
subclass of: Huntingtons disease
created date: 2007-10-05
modified date: April 11, 2009
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D006816

Juvenile-Onset Huntington Disease
type: Class
synonym: Juvenile Huntington Disease
synonym: Juvenile Onset Huntington's Disease
synonym: Juvenile-Onset Huntington's Disease
synonym: Juvenile-Onset Huntingtons Disease
subclass of: Huntingtons disease
created date: 2007-10-05
modified date: April 11, 2009
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D006816

Late-Onset Huntington Disease
type: Class
synonym: Late Onset Huntington Disease
synonym: Late Onset Huntingtons Disease
synonym: Late-Onset Huntington's Disease
synonym: Late-Onset Huntingtons Disease
subclass of: Huntingtons disease
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D006816

Demyelinating disease
type: Class
synonym: Demyelinating disorder
definition: Diseases characterized by loss or dysfunction of myelin in the central or peripheral nervous system.
subclass of: Nervous system disease
created date: 2007-10-05
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D003711
nif ID: _8.3_3
umls cui: C0011303

Demyelinating Autoimmune Disease
type: Class
synonym: Autoimmune Demyelinating Diseases, Central Nervous System
synonym: CNS Autoimmune Demyelinating Disorders
synonym: CNS Demyelinating Autoimmune Diseases
definition: Conditions characterized by loss or dysfunction of myelin (see MYELIN SHEATH) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or OLIGODENDROGLIA associated autoantigens (MeSH).
subclass of: Demyelinating disease
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D020278
scope note: For central nervous system diseases only; for demyelinating diseases of the peripheral nervous system consider POLYRADICULONEURITIS; GUILLAIN-BARRE SYNDROME; and CHRONIC INFLAMMATORY POLYRADICULONEUROPATHY; for demyelinating autoimmune diseases of the brain or spinal cord not otherwise specified coord with BRAIN DISEASES or SPINAL CORD DISEASES (MeSH).

Diffuse Cerebral Sclerosis of Schilder
type: Class
synonym: Alpers Disease
synonym: Alpers Syndrome
synonym: Alpers' Disease
synonym: Balo's Concentric Sclerosis
synonym: Cerebral Sclerosis, Diffuse
synonym: Encephalitis Periaxialis
synonym: Encephalitis Periaxialis Concentrica
synonym: Encephalitis Periaxialis Diffusa
synonym: Myelinoclastic Diffuse Sclerosis
synonym: Poliodystrophia Cerebri
synonym: Schilder Disease
synonym: Schilder's Disease
synonym: Schilders Disease
definition: A rare central nervous system demyelinating condition affecting children and young adults. Pathologic findings include a large, sharply defined, asymmetric focus of myelin destruction that may involve an entire lobe or cerebral hemisphere. The clinical course tends to be progressive and includes dementia, cortical blindness, cortical deafness, spastic hemiplegia, and pseudobulbar palsy. Concentric sclerosis of Balo is differentiated from diffuse cerebral sclerosis of Schilder by the pathologic finding of alternating bands of destruction and preservation of myelin in concentric rings. Alpers' Syndrome refers to a heterogeneous group of diseases that feature progressive cerebral deterioration and liver disease. (MeSH).
subclass of: Demyelinating Autoimmune Disease
created date: 2007-10-05
modified date: April 11, 2009
defining citation: Adams et al., Principles of Neurology, 6th ed, p914; Dev Neurosci 1991;13(4-5):267-73
defining citation URI: http://www.ninds.nih.gov/disorders/schilders/schilders.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D002549

Acute Disseminated Encephalomyelitis
type: Class
synonym: Postinfectious Encephalomyelitis
definition: An acute or subacute inflammatory process of the CENTRAL NERVOUS SYSTEM characterized histologically by multiple foci of perivascular demyelination. Symptom onset usually occurs several days after an acute viral infection or immunization, but it may coincide with the onset of infection or rarely no antecedent event can be identified. Clinical manifestations include CONFUSION, somnolence, FEVER, nuchal rigidity, and involuntary movements. The illness may progress to COMA and eventually be fatal (MeSH).
subclass of: Demyelinating Autoimmune Disease
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Adams et al., Principles of Neurology, 6th ed, p921
defining citation URI: http://www.ninds.nih.gov/disorders/encephalomyelitis/acute_encephalomyelitis.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D004673
scope note: When post-vaccinal (note X ref) coord IM with vaccine source if pertinent (IM or NIM); for post-vaccinal or postinfectious inflammation of the spinal cord only, use MYELITIS, TRANSVERSE; (MeSH).

Post-Vaccinal Encephalomyelitis
type: Class
synonym: Post-Vaccinal Encephalitis
synonym: Postvaccinal Encephalitis
synonym: Vaccination Encephalitis
definition: Form of Acute Disseminated Encephalomyelitis induced by a vacine-related infection.
subclass of: Acute Disseminated Encephalomyelitis
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D004673

Postexanthem Encephalomyelitis
type: Class
definition: Form of Acute Disseminated Encephalomyelitis following an exanthem infection (exanthem or exanthema = an eruptive disease (as measles) or its symptomatic eruption [Merriam-Webster Online Dictonary, c. 2006-2007]).
subclass of: Acute Disseminated Encephalomyelitis
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D004673

Acute Hemorrhagic Leukoencephalitis
type: Class
synonym: Acute Necrotizing Encephalitis
synonym: Acute Necrotizing Hemorrhagic Encephalomyelitis
synonym: Hemorrhagic Necrotizing Encephalomyelitis
synonym: Hurst's Disease
synonym: Leukoencephalitis Acuta Hemorrhagica
synonym: Subacute Hemorrhagic Leukoencephalitis
definition: A fulminant and often fatal demyelinating disease of the brain which primarily affects young adults and children. Clinical features include the rapid onset of weakness, SEIZURES, and COMA. It may follow a viral illness or MYCOPLASMA PNEUMONIAE infections but in most instances there is no precipitating event. Pathologic examination reveals marked perivascular demyelination and necrosis of white matter with microhemorrhages (MeSH).
subclass of: Demyelinating Autoimmune Disease
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Adams et al., Principles of Neurology, 6th ed, pp924-5
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D004684

Multiple Sclerosis
type: Class
synonym: Acute Fulminating Multiple Sclerosis
synonym: Disseminated Sclerosis
definition: An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur (MeSH).
subclass of: Demyelinating Autoimmune Disease
created date: 2007-10-05
modified date: 2007-10-05
acronym: MS
defining citation: Adams et al., Principles of Neurology, 6th ed, p903
defining citation URI: http://www.ninds.nih.gov/disorders/multiple_sclerosis/multiple_sclerosis.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D009103
nif ID: _8.3_3.1

Chronic Progressive Multiple Sclerosis
type: Class
synonym: Progressive Relapsing Multiple Sclerosis
synonym: Remittent Progressive Multiple Sclerosis
definition: A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form (MeSH).
subclass of: Multiple Sclerosis
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D020528

Primary Progressive Multiple Sclerosis
type: Class
subclass of: Chronic Progressive Multiple Sclerosis
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D020528

Secondary Progressive Multiple Sclerosis
type: Class
subclass of: Chronic Progressive Multiple Sclerosis
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D020528

Relapsing-Remitting Multiple Sclerosis
type: Class
synonym: Acute Relapsing Multiple Sclerosis
synonym: Remitting-Relapsing Multiple Sclerosis
definition: The most common clinical variant of MULTIPLE SCLEROSIS, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see OPTIC NEURITIS), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum (MeSH).
subclass of: Multiple Sclerosis
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Adams et al., Principles of Neurology, 6th ed, pp903-914
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D020529

Neuromyelitis Optica
type: Class
synonym: Devic Disease
synonym: Devic Syndrome
synonym: Devic's Disease
synonym: Devic's Syndrome
synonym: Devics Disease
synonym: Devics Syndrome
definition: A syndrome characterized by acute OPTIC NEURITIS in combination with acute MYELITIS, TRANSVERSE. Demyelinating and/or necrotizing lesions form in one or both optic nerves and in the spinal cord. The onset of optic neuritis and myelitis may be simultaneous or separated by several months (MeSH).
subclass of: Demyelinating Autoimmune Disease
created date: 2007-10-05
modified date: April 11, 2009
defining citation: J Neurol Neurosurg Psychiatry 1996 Apr;60(4):382-387
defining citation URI: http://www.ninds.nih.gov/disorders/neuromyelitis_optica/neuromyelitis_optica.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D009471

Transverse Myelitis
type: Class
synonym: Acute Transverse Myelitis
synonym: Demyelinative Myelitis
synonym: Necrotizing Myelitis
synonym: Subacute Transverse Myelitis
synonym: Transverse Myelopathy Syndrome
definition: Inflammation of a transverse portion of the spinal cord characterized by acute or subacute segmental demyelination or necrosis. The condition may occur sporadically, follow an infection or vaccination, or present as a paraneoplastic syndrome (see also ENCEPHALOMYELITIS, ACUTE DISSEMINATED). Clinical manifestations include motor weakness, sensory loss, and incontinence (MeSH).
subclass of: Demyelinating Autoimmune Disease
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Adams et al., Principles of Neurology, 6th ed, pp1242-6
defining citation URI: http://www.ninds.nih.gov/disorders/transversemyelitis/transversemyelitis.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D009188
scope note: Post-vaccinal or postinfectious inflammation of the spinal cord only goes here, in central nervous system or brain see X refs at ENCEPHALOMYELITIS, ACUTE DISSEMINATED (MeSH).

Postinfectious Myelitis
type: Class
definition: A form of Transverse Myelitis induced by an infection.(MeSH).
subclass of: Transverse Myelitis
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D009188

Postvaccinal Myelitis
type: Class
definition: A form of Transverse Myelitis induced by a vaccine-induced infection.(MeSH).
subclass of: Postinfectious Myelitis
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D009188

Paraneoplastic Myelitis
type: Class
definition: A form of Transverse Myelitis associated with a neoplastic condition.(MeSH).
subclass of: Transverse Myelitis
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D009188

Neurodevelopmental disease
type: Class
definition: Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures. (MeSH).
subclass of: Nervous system disease
editorial note: Note BIRNLex seeks to evolve a core subsumptive disease hierarchy based first on the effected function, then the effected structure, the latter for those categories of nervous system disease that have typically been associated with structural abnormalities or trauma (e.g., Motor neuron diseases, cerebrovascular trauma, etc.). Disease causation is in fact the ultimate goal of much biomedical research, and our recognitition of ALL the driving causes of a particular disease - and the ways in which these causes inter-relate with each other and with effected structures to cause a change in normal function is a critical representational task BIRNlex will increasingly take on to provide an evolving, nuanced functional reconstruction of disease as a process and an outcome. These relations will be represented using OWL ObjectProperties. Function is the most sensible context to drive the asserted subsumptive hierarchy for representing nervous system disease, since it is with the clinical description of altered, impaired, decreased, or lost function that the diagnosis - and the research - of disease is rooted. Much has already been described regarding both the effected biomaterial entities and the causes of disease. However, it is because understanding of such relations still is far from comprehensive, that biomedical investigation into nervous system disease continues. Finally, given the "realist" ontology design approach being used to construct BIRNLex, function must be represented as inhering in some biomaterial entity from molecules and their controlling elements on up through gross anatomical structures. Over time, BIRNLex will provide the required relations to depict these functionally-related structures for both the normal and pathological function of the nervous system. This will be true both for the causes and for the outcomes of nervous system disease. Initial work to extend this expressive representation will focus on the neurodegenerative diseases being studied by …
created date: 2007-10-05
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
nif ID: _8.3_4

Nervous system neoplastic disease
type: Class
synonym: Cancer
definition: Abnormal mass of tissue in the nervous system.
subclass of: Nervous system disease
editorial note: Despite the fact most of the subclasses for neoplastic disease appear to be representing an object (the neoplasm itself), they should be considered to be representing the disposition for a given tissue to develop such a neoplasm. It is left for the future as to how this disposition will be linked to the tissue bearing that disposition. Again - we will consult those working on a realist representation of neoplastic disorders for insight and guidance on this task (BB: 2007-10-05).
editorial note: This entire branch will ultimately be vetted against the NCI Thesaurus and reviewed with NCICB staff working on representation for nervous system neoplasms (2007-10-05).
created date: 2007-10-05
modified date: April 29, 2010
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D009423
nif ID: _8.3_10

Hereditary Central Nervous System Demyelinating Diseases
type: Class
subclass of: Demyelinating disease
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D020279

Adrenoleukodystrophy
type: Class
synonym: Adrenomyeloneuropathy
synonym: Schilder-Addison Complex
synonym: X-Linked Adrenoleukodystrophy
definition: An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein ( ATP-BINDING CASSETTE TRANSPORTERS) (MeSH).
subclass of: Hereditary Central Nervous System Demyelinating Diseases
created date: 2007-10-05
modified date: 2007-10-05
acronym: ALD
defining citation URI: http://www.ninds.nih.gov/disorders/adrenoleukodystrophy/adrenoleukodystrophy.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D000326
scope note: Do not confuse with ADRENOLEUKODYSTROPHY, NEONATAL see PEROXISOMAL DISORDERS (MeSH)

Alexander Disease
type: Class
synonym: Alexander's Disease
synonym: Alexanders Disease
definition: A rare inherited disorder of myelin formation. Alexander disease is a progressive leukoencephalopathy whose hallmark is the widespread accumulation of cytoplasmic inclusions called Rosenthal fibers. The fibers contain GLIAL FIBRILLARY ACIDIC PROTEIN in association with ALPHA-CRYSTALLIN B CHAIN. Rosenthal fibers are found predominantly in ASTROCYTES located in the subependymal, subpial, and periventricular areas of the BRAIN (MeSH).
subclass of: Hereditary Central Nervous System Demyelinating Diseases
created date: 2007-10-05
modified date: April 11, 2009
defining citation URI: http://www.ninds.nih.gov/disorders/alexander_disease/alexander_disease.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D038261

Canavan Disease
type: Class
synonym: Aspartoacylase Deficiency Disease
synonym: Canavan's Disease
synonym: Canavan-van Bogaert-Bertrand Disease
synonym: Canavans Disease
synonym: Familial Form of Canavan Disease
synonym: Leukodystrophy, Spongiform
synonym: Spongy Disease of Central Nervous System
synonym: Spongy Disease of White Matter
definition: A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA (MeSH).
subclass of: Hereditary Central Nervous System Demyelinating Diseases
created date: 2007-10-05
modified date: April 11, 2009
defining citation: Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71
defining citation URI: http://www.ninds.nih.gov/disorders/canavan/canavan.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D017825
scope note: Do not confuse X ref CANAVAN-VAN BOGAERT-BERTRAND DISEASE with VAN BOGAERT'S LEUKOENCEPHALITIS see SUBACUTE SCLEROSING PANENCEPHALITIS (MeSH).

Type I Canavan Disease
type: Class
synonym: Neonatal Canavan Disease
synonym: Type I Canavan's Disease
synonym: Type I Canavans Disease
subclass of: Canavan Disease
created date: 2007-10-05
modified date: April 11, 2009
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D017825

Type II Canavan Disease
type: Class
synonym: Infantile Canavan Disease
synonym: Spongy Degeneration of Infancy
synonym: Type II Canavan's Disease
synonym: Type II Canavans Disease
subclass of: Canavan Disease
created date: 2007-10-05
modified date: April 11, 2009
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D017825

Type III Canavan Disease
type: Class
synonym: Juvenile Canavan Disease
synonym: Type III Canavan's Disease
synonym: Type III Canavans Disease
subclass of: Canavan Disease
created date: 2007-10-05
modified date: April 11, 2009
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D017825

Globoid Cell Leukodystrophy
type: Class
synonym: Diffuse Globoid Body Sclerosis
synonym: Galactosylceramidase Deficiency Disease
synonym: Galactosylceramide-beta-Galactosidase Deficiency Disease
synonym: Globoid Leukodystrophy
synonym: Krabbe Disease
synonym: Krabbe's Disease
synonym: Krabbe's Leukodystrophy
synonym: Krabbes Disease
definition: An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses (MeSH).
subclass of: Hereditary Central Nervous System Demyelinating Diseases
created date: 2007-10-05
modified date: April 11, 2009
defining citation URI: http://www.ninds.nih.gov/disorders/krabbe/krabbe.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D007965

Classic Globoid Cell Leukodystrophy
type: Class
subclass of: Globoid Cell Leukodystrophy
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D007965

Infantile Globoid Cell Leukodystrophy
type: Class
subclass of: Globoid Cell Leukodystrophy
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D007965

Early-Onset Globoid Cell Leukodystrophy
type: Class
subclass of: Globoid Cell Leukodystrophy
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D007965

Late-Onset Globoid Cell Leukodystrophy
type: Class
subclass of: Globoid Cell Leukodystrophy
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D007965

Niemann-Pick Disease
type: Class
synonym: Niemann Pick Disease
synonym: Niemann Pick's Disease
synonym: Niemann-Pick Diseases
synonym: Niemann-Pick's Disease
definition: A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities ( SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences (MeSH).
subclass of: Hereditary Central Nervous System Demyelinating Diseases
created date: 2007-10-05
modified date: April 11, 2009
defining citation URI: http://www.ninds.nih.gov/disorders/niemann/niemann.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D009542

Niemann-Pick Disease, Type A
type: Class
synonym: Classical Niemann-Pick Disease
synonym: Niemann Pick's Disease, Type A
synonym: Niemann-Pick Disease, Acute Neuronopathic Form
synonym: Niemann-Pick Disease, Acute Neurovisceral Form
synonym: Niemann-Pick Disease, Neuronopathic Type
synonym: Niemann-Pick's Disease, Type A
synonym: Sphingomyelinase Deficiency Disease
definition: The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the RETICULOENDOTHELIAL SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage (MeSH).
subclass of: Niemann-Pick Disease
created date: 2007-10-05
modified date: April 11, 2009
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D052536

Niemann-Pick Disease, Type B
type: Class
synonym: Niemann Pick's Disease, Type B
synonym: Niemann-Pick Disease, Adult Non-Neuronopathic
synonym: Niemann-Pick Disease, Non-Neuronopathic Type
synonym: Niemann-Pick Disease, Type E
synonym: Niemann-Pick Disease, Visceral
synonym: Niemann-Pick's Disease, Type B
definition: An allelic disorder of TYPE A NIEMANN-PICK DISEASE, a late-onset form. It is also caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE but clinical signs involve only visceral organs (non-neuropathic type) (MeSH).
subclass of: Niemann-Pick Disease
created date: 2007-10-05
modified date: April 11, 2009
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D052537

Niemann-Pick Disease, Type C
type: Class
synonym: Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia
synonym: Niemann Pick Disease, Type C
synonym: Niemann Pick's Disease, Type C
synonym: Niemann-Pick Disease with Cholesterol Esterification Block
synonym: Niemann-Pick Disease without Sphingomyelinase Deficiency
synonym: Niemann-Pick Disease, Chronic Neuronopathic Form
synonym: Niemann-Pick Disease, Nova Scotian
synonym: Niemann-Pick Disease, Type D
synonym: Niemann-Pick's Disease, Type C
definition: An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the CENTRAL NERVOUS SYSTEM. Type C (or C1) and type D are allelic disorders caused by mutation of gene (NPC1) encoding a protein that mediate intracellular cholesterol transport from lysosomes. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry (MeSH).
subclass of: Niemann-Pick Disease
created date: 2007-10-05
modified date: April 11, 2009
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D052556

Metachromatic Leukodystrophy
type: Class
synonym: Arylsulfatase A Deficiency Disease
synonym: Cerebroside Sulphatase Deficiency Disease
synonym: Greenfield's Disease
synonym: Sulfatide Lipidosis
definition: An autosomal recessive metabolic disease caused by a deficiency of arylsulfatase A (CEREBROSIDE-SULFATASE) leading to intralysosomal accumulation of cerebroside sulfate ( SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms (MeSH).
subclass of: Hereditary Central Nervous System Demyelinating Diseases
created date: 2007-10-05
modified date: 2007-10-05
defining citation URI: http://www.ninds.nih.gov/disorders/metachromatic_leukodystrophy/metachromatic_leukodystrophy.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D007966

Metachromatic Leukodystrophy, Infant-Type
type: Class
subclass of: Metachromatic Leukodystrophy
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D007966

Metachromatic Leukodystrophy, Juvenile-Type
type: Class
subclass of: Metachromatic Leukodystrophy
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D007966

Metachromatic Leukodystrophy, Adult-Type
type: Class
subclass of: Metachromatic Leukodystrophy
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D007966

Pelizaeus-Merzbacher Disease
type: Class
synonym: Cockayne-Pelizaeus-Merzbacher Disease
synonym: Pelizaeus Merzbacher's Disease
synonym: Pelizaeus-Merzbacher's Disease
definition: A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance) (MeSH).
subclass of: Hereditary Central Nervous System Demyelinating Diseases
created date: 2007-10-05
modified date: April 11, 2009
defining citation URI: http://www.ninds.nih.gov/disorders/pelizaeus_merzbacher/pelizaeus_merzbacher.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D020371

Classic Pelizaeus-Merzbacher Disease
type: Class
synonym: Classic Pelizaeus Merzbacher's Disease
synonym: Classic Pelizaeus-Merzbacher's Disease
subclass of: Pelizaeus-Merzbacher Disease
created date: 2007-10-05
modified date: April 11, 2009
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D020371

Transitional Pelizaeus-Merzbacher Disease
type: Class
synonym: Transitional Pelizaeus Merzbacher's Disease
synonym: Transitional Pelizaeus-Merzbacher's Disease
subclass of: Pelizaeus-Merzbacher Disease
created date: 2007-10-05
modified date: April 11, 2009
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D020371

Adult Pelizaeus-Merzbacher Disease
type: Class
synonym: Adult Pelizaeus-Merzbacher's Disease
synonym: Adult Pelizaeus-Merzbachers Disease
subclass of: Pelizaeus-Merzbacher Disease
created date: 2007-10-05
modified date: April 11, 2009
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D020371

Progressive Multifocal Leukoencephalopathy
type: Class
synonym: JC Polyomavirus Encephalopathy
synonym: PML
definition: An opportunistic viral infection of the central nervous system associated with conditions that impair cell-mediated immunity (e.g., ACQUIRED IMMUNODEFICIENCY SYNDROME and other IMMUNOLOGIC DEFICIENCY SYNDROMES; HEMATOLOGIC NEOPLASMS; IMMUNOSUPPRESSION; and COLLAGEN DISEASES). The causative organism is JC Polyomavirus ( JC VIRUS) which primarily affects oligodendrocytes, resulting in multiple areas of demyelination. Clinical manifestations include DEMENTIA; ATAXIA; visual disturbances; and other focal neurologic deficits, generally progressing to a vegetative state within 6 months (MeSH).
subclass of: Demyelinating disease
created date: 2007-10-05
modified date: 2007-10-05
defining citation URI: http://www.ninds.nih.gov/disorders/pml/pml.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D007968

Central Pontine Myelinolysis
type: Class
synonym: Extrapontine Myelinoclasis
synonym: Extrapontine Myelinolysis
definition: A demyelinating condition affecting the PONS and characterized clinically by an acute progressive QUADRIPLEGIA; DYSARTHRIA; DYSPHAGIA; and alterations of consciousness. Pathologic features include prominent demyelination in the central PONS with sparing of axons and neurons. This condition is usually associated with systemic disorders such as HYPONATREMIA; chronic ALCOHOLISM; LIVER FAILURE; severe BURNS; malignant NEOPLASMS; hemorrhagic PANCREATITIS; HEMODIALYSIS; and SEPSIS. The rapid medical correction of hyponatremia has been cited as a cause of this condition (MeSH).
subclass of: Demyelinating disease
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Adams et al., Principles of Neurology, 6th ed, pp1125-6
defining citation URI: http://www.ninds.nih.gov/disorders/central_pontine_myelinolysis.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D017590

Polyradiculoneuropathy
type: Class
synonym: Peripheral Autoimmune Demyelinating Disease
synonym: Polyneuropathy
synonym: Polyradiculoneuritis
definition: Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy ( GUILLAIN-BARRE SYNDROME) and POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots (MeSH).
subclass of: Demyelinating disease
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D011129
nif ID: _8.3_3.2
scope note: Do not confuse with POLYRADICULOPATHY (disease of multiple nerve roots) nor with RADICULOPATHY (disease of a single nerve root)

Guillain-Barre Syndrome
type: Class
synonym: Acute Autoimmune Neuropathy
synonym: Acute Inflammatory Demyelinating Polyradiculoneuropathy
synonym: Acute Inflammatory Polyneuropathy
synonym: Acute Inflammatory Polyradiculoneuropathy
synonym: Guillaine-Barre Syndrome
synonym: Landry-Guillain-Barre Syndrome
definition: An acute inflammatory autoimmune neuritis caused by T cell- mediated cellular immune response directed towards peripheral myelin. Demyelination occurs in peripheral nerves and nerve roots. The process is often preceded by a viral or bacterial infection, surgery, immunization, lymphoma, or exposure to toxins. Common clinical manifestations include progressive weakness, loss of sensation, and loss of deep tendon reflexes. Weakness of respiratory muscles and autonomic dysfunction may occur (MeSH).
subclass of: Polyradiculoneuropathy
created date: 2007-10-05
modified date: 2007-10-05
acronym: AIDP
defining citation: Adams et al., Principles of Neurology, 6th ed, pp1312-1314
defining citation URI: http://www.ninds.nih.gov/disorders/gbs/gbs.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D020275
scope note: Do not confuse X ref POLYRADICULONEUROPATHY, ACUTE INFLAMMATORY with POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY see POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING

Miller Fisher Syndrome
type: Class
synonym: Fisher Syndrome
synonym: Guillain Barre Syndrome, Miller Fisher Variant
synonym: Ophthalmoplegia, Ataxia and Areflexia Syndrome
definition: A variant of the GUILLAIN-BARRE SYNDROME characterized by the acute onset of oculomotor dysfunction, ataxia, and loss of deep tendon reflexes with relative sparing of strength in the extremities and trunk. The ataxia is produced by peripheral sensory nerve dysfunction and not by cerebellar injury. Facial weakness and sensory loss may also occur. The process is mediated by autoantibodies directed against a component of myelin found in peripheral nerves (MeSH).
subclass of: Guillain-Barre Syndrome
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Adams et al., Principles of Neurology, 6th ed, p1313; Neurology 1987 Sep;37(9):1493-8
defining citation URI: http://www.ninds.nih.gov/disorders/miller_fisher/miller_fisher.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D019846
scope note: X ref FISHER SYNDROME: do not confuse with the Fisher one-and-a-half syndrome, an eye movement disorder caused by a brain stem lesion.

Hereditary Sensory and Autonomic Neuropathies
type: Class
synonym: Congenital Insensitivity to Pain with Anhidrosis
synonym: Hereditary Sensory Radicular Neuropathy
definition: A group of inherited disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and clinically by loss of sensation and autonomic dysfunction. There are five subtypes. Type I features autosomal dominant inheritance and distal sensory involvement. Type II is characterized by autosomal inheritance and distal and proximal sensory loss. Type III is DYSAUTONOMIA, FAMILIAL. Type IV features insensitivity to pain, heat intolerance, and mental deficiency. Type V is characterized by a selective loss of pain with intact light touch and vibratory sensation (MeSH).
subclass of: Polyradiculoneuropathy
created date: 2007-10-05
modified date: 2007-10-05
acronym: HSAN
defining citation: Joynt, Clinical Neurology, 1995, Ch51, pp142-4
defining citation URI: http://www.ninds.nih.gov/disorders/neuropathy_hereditary/neuropathy_hereditary.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D009477
scope note: Do not confuse with HEREDITARY MOTOR AND SENSORY NEUROPATHIES; for X refs to HSAN types: HSAN TYPE III is see DYSAUTONOMIA, FAMILIAL.

Hereditary Sensory Autonomic Neuropathy, Type 1
type: Class
abbrev: HSAN Type I
abbrev: HSN Type I
subclass of: Hereditary Sensory and Autonomic Neuropathies
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D009477

Hereditary Sensory Autonomic Neuropathy, Type 2
type: Class
abbrev: HSAN Type II
abbrev: HSN Type II
subclass of: Hereditary Sensory and Autonomic Neuropathies
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D009477

Hereditary Sensory Autonomic Neuropathy, Type 4
type: Class
abbrev: HSAN Type IV
abbrev: HSN Type IV
subclass of: Hereditary Sensory and Autonomic Neuropathies
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D009477

Hereditary Sensory Autonomic Neuropathy, Type 5
type: Class
abbrev: HSAN Type V
abbrev: HSN Type V
subclass of: Hereditary Sensory and Autonomic Neuropathies
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D009477

Familial Dysautonomia
type: Class
synonym: Dominant Hereditary Sensory Neuropathy, Type 3
synonym: Hereditary-Sensory and Autonomic Neuropathy Type III
synonym: Neuropathy, Hereditary and Autonomic, Type III
synonym: Riley-Day Syndrome
abbrev: HSAN Type III
definition: An autosomal disorder of the peripheral and autonomic nervous systems limited to individuals of Ashkenazic Jewish descent. Clinical manifestations are present at birth and include diminished lacrimation, defective thermoregulation, orthostatic hypotension ( HYPOTENSION, ORTHOSTATIC), fixed pupils, excessive SWEATING, loss of pain and temperature sensation, and absent reflexes. Pathologic features include reduced numbers of small diameter peripheral nerve fibers and autonomic ganglion neurons (MeSH).
subclass of: Autonomic Nervous System Disease
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Adams et al., Principles of Neurology, 6th ed, p1348; Nat Genet 1993;4(2):160-4
defining citation URI: http://www.ninds.nih.gov/disorders/dysautonomia/dysautonomia.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D004402
scope note: Do not confuse with DYSAUTONOMIA see AUTONOMIC NERVOUS SYSTEM DISEASES.

Atypical Pelizaeus-Merzbacher Disease
type: Class
synonym: Atypical Pelizaeus Merzbacher's Disease
synonym: Atypical Pelizaeus-Merzbacher's Disease
subclass of: Pelizaeus-Merzbacher Disease
created date: 2007-10-05
modified date: April 11, 2009
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D020371

Chronic Inflammatory Demyelinating Polyradiculoneuropathy
type: Class
synonym: Chronic Inflammatory Demyelinating Polyneuropathy
synonym: Chronic Inflammatory Polyradiculoneuropathy
synonym: Chronic Inflammatory Polyradiculopathy
definition: A slowly progressive autoimmune demyelinating disease of peripheral nerves and nerve roots. Clinical manifestations include weakness and sensory loss in the extremities and enlargement of peripheral nerves. The course may be relapsing-remitting or demonstrate a step-wise progression. Protein is usually elevated in the spinal fluid and cranial nerves are typically spared. GUILLAIN-BARRE SYNDROME features a relatively rapid progression of disease which distinguishes it from this condition (MeSH).
subclass of: Polyradiculoneuropathy
created date: 2007-10-05
modified date: 2007-10-05
acronym: CIDP
defining citation: Adams et al., Principles of Neurology, 6th ed, p1337
defining citation URI: http://www.ninds.nih.gov/disorders/cidp/cidp.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D020277
scope note: Do do not confuse X ref CHRONIC INFLAMMATORY POLYRADICULONEUROPATHY with POLYRADICULONEUROPATHY, ACUTE INFLAMMATORY see GUILLAIN-BARRE SYNDROME.

Subacute Combined Degeneration
type: Class
synonym: Subacute Combined Neuropathy Degeneration
definition: A neuropathy due to VITAMIN B 12 DEFICIENCY or to excessive NITROUS OXIDE inhalation. It is associated with overproduction of the myelinolytic TUMOR NECROSIS FACTOR-ALPHA (MeSH).
subclass of: Demyelinating disease
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D052879

Motor Neuron Disease
type: Class
synonym: Motor System Disease
definition: Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy ( BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation (MeSH).
subclass of: Neurodegenerative disease
created date: 2007-10-05
modified date: 2007-11-18
defining citation: Adams et al., Principles of Neurology, 6th ed, p1089
defining citation URI: http://www.ninds.nih.gov/disorders/motor_neuron_diseases/motor_neuron_diseases.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D016472
nif ID: _8.3_2.5
umls cui: C0085084
usage note: Note that MeSH includes the following sub-types which cannot easily be specified as subtypes without leading to multiple inheritance (e.g., Anterior Horn Cell Disease; Familial Motor Neuron Disease; Lateral Sclerosis; Lower Motor Neuron Disease; Upper Motor Neuron Disease; Primary Lateral Sclerosis; Secondary Motor Neuron Disease). These subtypes describe either the location within the CNS axis where motor neuron degeneration is observed, the complex temporal development of that degeneration, and the hereditory nature of the disorder. In the course of many specific patient cases, the location of degenerating MNs starts in one location and then procedes to others, as is the case for some of the concrete child classess created for this parent class. In the end, a more detailed OWL representation would need to be employed where the location, timing, and putative casue of degenerating MNs is specified using ObjectProperties, and such subtypes as LOWER MOTOR NEURON DISEASE would then be inferred types. The practical problem with this approach is that terms such as ALS and LOWER MN DISEASE have a particular meaning in a clinical context. Though ALS might be inferred to be a member of the set of LOWER MN DISEASEs, since there is loss of MNs in the lower spinal cord, clinicians typically consider LOWER MN DISEASE to have a distinct set of presenting signs when compared to ALS. Clinicians do not typically consider ALS to be a type of LOWER MN DISEASE (BB: 2007-10-05)

Amyotrophic Lateral Sclerosis
type: Class
synonym: Gehrig's Disease
synonym: Gehrigs Disease
synonym: Lou Gehrig Disease
synonym: Lou Gehrig's Disease
synonym: Lou Gehrigs Disease
definition: A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts (MeSH).
subclass of: Motor Neuron Disease
created date: 2007-10-05
modified date: April 11, 2009
acronym: ALS
defining citation: Adams et al., Principles of Neurology, 6th ed, pp1089-94
defining citation URI: http://www.ninds.nih.gov/disorders/amyotrophiclateralsclerosis/amyotrophiclateralsclerosis.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D000690
nif ID: _8.3_2.5.1

Progressive Bulbar Palsy
type: Class
synonym: Bulbar Palsy
synonym: Bulbar paralysis
synonym: Fazio-Londe Syndrome
synonym: Fazio-Londe's Syndrome
definition: A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults (MeSH).
subclass of: Motor Neuron Disease
created date: 2007-10-05
modified date: 2007-11-18
defining citation: Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D010244
umls cui: C0030442

Spinal muscular atrophy
type: Class
preferred label: Spinal Muscular Atrophy
synonym: Bulbospinal Neuronopathy
synonym: Kennedy Syndrome
synonym: Kennedy's Syndrome
synonym: Progressive Myelopathic Muscular Atrophy
definition: A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary (MeSH).
subclass of: Motor Neuron Disease
created date: 2007-10-05
modified date: April 11, 2009
acronym: SMA
defining citation: Adams et al., Principles of Neurology, 6th ed, p1089
defining citation URI: http://www.ninds.nih.gov/disorders/sma/sma.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D009134
nif ID: _8.3_2.5.2
putative class extension: Adult Spinal Muscular Atrophy
putative class extension: Distal Spinal Muscular Atrophy
putative class extension: Oculopharyngeal Spinal Muscular Atrophy
putative class extension: Progressive Proximal Myelopathic Muscular Atrophy
putative class extension: Scapuloperoneal Form of Spinal Muscular Atrophy
umls cui: C0026847

Spinal Muscular Atrophies of Childhood
type: Class
synonym: Bulbospinal Neuronopathy
synonym: Kennedy Syndrome
synonym: Kennedy's Syndrome
synonym: Progressive Myelopathic Muscular Atrophy
definition: A group of recessively inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive (MeSH).
subclass of: Spinal muscular atrophy
created date: 2007-10-05
modified date: April 11, 2009
defining citation: J Med Genet 1996 Apr:33(4):281-3
defining citation URI: http://www.ninds.nih.gov/disorders/kennedys/kennedys.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D009134
scope note: Infantile, childhood or adolescent: for other, MUSCULAR ATROPHY, SPINAL is available (MeSH).

Type I Spinal Muscular Atrophy
type: Class
synonym: Hereditary Motor Neuropathy Proximal Type I
synonym: Infantile Spinal Muscular Atrophy
synonym: Werdnig-Hoffmann Disease
abbrev: HMN Proximal Type I
subclass of: Spinal Muscular Atrophies of Childhood
created date: 2007-10-05
modified date: 2007-11-18
acronym: WHD
defining citation: J Med Genet 1996 Apr:33(4):281-3
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D014897
umls cui: C0043116
usage note: Type I is fatal in infancy (MeSH).
scope note: Additional MeSH entry terms imply there are subtypes based on the location of the motor neuron degeneration - e.g.: Proximal Hereditary Motor Neuropathy (HMN) Type I

Type II Spinal Muscular Atrophy
type: Class
synonym: Late infantile spinal muscular atrophy
abbrev: SMA2
subclass of: Spinal Muscular Atrophies of Childhood
created date: 2007-10-05
modified date: 2007-11-18
defining citation: J Med Genet 1996 Apr:33(4):281-3
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D014897
umls cui: C0393538
scope note: Type II has a late infantile onset and is associated with survival into the second or third decade (MeSH).

Type III Spinal Muscular Atrophy
type: Class
synonym: Juvenile Spinal Muscular Atrophy
synonym: Kugelberg-Welander Disease
abbrev: SMA3
abbrev: SMA type III
subclass of: Spinal Muscular Atrophies of Childhood
created date: 2007-10-05
modified date: 2007-11-18
defining citation: J Med Genet 1996 Apr:33(4):281-3
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D014897
umls cui: C0152109
scope note: Type III has its onset in childhood and is slowly progressive (MeSH).

Multiple System Atrophy
type: Class
synonym: Multiple System Atrophy Syndrome
synonym: Multisystem Atrophy
synonym: Multisystemic Atrophy
definition: A syndrome complex composed of three conditions which represent clinical variants of the same disease process: STRIATONIGRAL DEGENERATION; SHY-DRAGER SYNDROME; and the sporadic form of OLIVOPONTOCEREBELLAR ATROPHIES. Clinical features include autonomic, cerebellar, and basal ganglia dysfunction. Pathologic examination reveals atrophy of the basal ganglia, cerebellum, pons, and medulla, with prominent loss of autonomic neurons in the brain stem and spinal cord (MeSH).
subclass of: Neurodegenerative disease
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Adams et al., Principles of Neurology, 6th ed, p1076; Baillieres Clin Neurol 1997 Apr;6(1):187-204; Med Clin North Am 1999 Mar;83(2):381-92
defining citation URI: http://www.ninds.nih.gov/disorders/msa/msa.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D019578
nif ID: _8.3_2.11
scope note: A specific neurodegenerative syndrome complex; not for atrophy in other systems (BB: 2007-10-05)

Olivopontocerebellar Atrophy
type: Class
synonym: Dejerine-Thomas Syndrome
synonym: Olivo-Ponto-Cerebellar Atrophy
synonym: Olivo-Ponto-Cerebellar Degeneration
synonym: Olivopontocerebellar Atrophies
synonym: Olivopontocerebellar Atrophy
synonym: Olivopontocerebellar Degeneration
synonym: Pontoolivocerebellar Atrophy
synonym: Presenile Ataxia
definition: A group of inherited and sporadic disorders which share progressive ataxia in combination with atrophy of the CEREBELLUM; PONS; and inferior olivary nuclei. Additional clinical features may include MUSCLE RIGIDITY; NYSTAGMUS, PATHOLOGIC; RETINAL DEGENERATION; MUSCLE SPASTICITY; DEMENTIA; URINARY INCONTINENCE; and OPHTHALMOPLEGIA. The familial form has an earlier onset (second decade) and may feature spinal cord atrophy. The sporadic form tends to present in the fifth or sixth decade, and is considered a clinical subtype of MULTIPLE SYSTEM ATROPHY (MeSH).
subclass of: Multiple System Atrophy
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Adams et al., Principles of Neurology, 6th ed, p1085
defining citation URI: http://www.ninds.nih.gov/disorders/opca/opca.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D009849
umls cui: C0028968
usage note: The MeSH term has the following implied subtypes: Nonfamilial Olivopontocerebellar Atrophy; Idiopathic Olivopontocerebellar Atrophy

Familial Olivopontocerebellar Atrophy
type: Class
synonym: Inherited Olivopontocerebellar Atrophy
subclass of: Olivopontocerebellar Atrophy
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Adams et al., Principles of Neurology, 6th ed, p1085
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D009849
scope note: The familial form has an earlier onset (second decade) and may feature spinal cord atrophy. (BB: 2007-10-05)

Shy-Drager Syndrome
type: Class
synonym: Dysautonomia-Orthostatic Hypotension Syndrome
synonym: Dysautonomic Orthostatic Hypotension
synonym: Idiopathic Orthostatic Hypotension, Shy-Drager Type
synonym: Multiple System Atrophy with Orthostatic Hypotension
synonym: Progressive Autonomic Failure
definition: A progressive neurodegenerative condition of the central and autonomic nervous systems characterized by atrophy of the preganglionic lateral horn neurons of the thoracic spinal cord, which differentiates this condition from other forms of idiopathic orthostatic hypotension ( HYPOTENSION, ORTHOSTATIC). This disease is generally considered a clinical variant of MULTIPLE SYSTEM ATROPHY. Affected individuals present in the fifth or sixth decade with orthostasis and bladder dysfunction; and later develop FECAL INCONTINENCE; anhidrosis; ATAXIA; IMPOTENCE; and alterations of tone suggestive of basal ganglia dysfunction (MeSH).
subclass of: Autonomic Nervous System Disease
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Adams et al., Principles of Neurology, 6th ed, p536
defining citation URI: http://www.ninds.nih.gov/disorders/striatonigral_degeneration/striatonigral_degeneration.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D012791

Striatonigral Degeneration
type: Class
synonym: Striatonigral Atrophy
definition: A sporadic neurodegenerative disease with onset in middle-age characterized clinically by Parkinsonian features (e.g., MUSCLE RIGIDITY; HYPOKINESIA; stooped posture) and HYPOTENSION. This condition is considered a clinical variant of MULTIPLE SYSTEM ATROPHY. Pathologic features include a prominent loss of neurons in the zona compacta of the SUBSTANTIA NIGRA and PUTAMEN (MeSH).
subclass of: Multiple System Atrophy
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Adams et al., Principles of Neurology, 6th ed, p1075-6
defining citation URI: http://www.ninds.nih.gov/disorders/msa_orthostatic_hypotension/msa_orthostatic_hypotension.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020955
umls cui: C0270733

Neuromuscular Disease
type: Class
definition: A general term encompassing lower MOTOR NEURON DISEASE; PERIPHERAL NERVOUS SYSTEM DISEASES; and certain MUSCULAR DISEASES. Manifestations include MUSCLE WEAKNESS; FASCICULATION; muscle ATROPHY; SPASM; MYOKYMIA; MUSCLE HYPERTONIA, myalgias, and MUSCLE HYPOTONIA (MeSH).
subclass of: Multisystem disease
created date: 2007-10-05
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D009468
nif ID: _8.3_9

Autonomic Nervous System Disease
type: Class
synonym: ANS Diseases
synonym: Autonomic Diseases
synonym: Autonomic Nervous System Disorders
synonym: Autonomic Peripheral Nervous System Diseases
synonym: Dysautonomia
definition: Diseases of the parasympathetic or sympathetic divisions of the AUTONOMIC NERVOUS SYSTEM; which has components located in the CENTRAL NERVOUS SYSTEM and PERIPHERAL NERVOUS SYSTEM. Autonomic dysfunction may be associated with HYPOTHALAMIC DISEASES; BRAIN STEM disorders; SPINAL CORD DISEASES; and PERIPHERAL NERVOUS SYSTEM DISEASES. Manifestations include impairments of vegetative functions including the maintenance of BLOOD PRESSURE; HEART RATE; pupil function; SWEATING; REPRODUCTIVE AND URINARY PHYSIOLOGY; and DIGESTION (MeSH).
subclass of: Nervous system disease
editorial note: MeSH includes synonyms for two implied sub-types: Pure Autonomic Failure; Segmental Autonomic Dysfunction
created date: 2007-10-05
modified date: 2007-11-18
defining citation URI: http://www.ninds.nih.gov/disorders/dysautonomia/dysautonomia.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D001342

Parasympathetic Nervous System Disease
type: Class
subclass of: Autonomic Nervous System Disease
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D001342

Holmes-Adie Syndrome
type: Class
synonym: Adie Syndrome
subclass of: Autonomic Nervous System Disease
created date: 2007-10-05
modified date: 2007-10-05
defining citation URI: http://www.ninds.nih.gov/disorders/holmes_adie/holmes_adie.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D000270

Autonomic Dysreflexia
type: Class
synonym: Autonomic Hyperreflexia
synonym: Spinal Autonomic Dysreflexia
definition: A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a CEREBROVASCULAR ACCIDENT (MeSH).
subclass of: Autonomic Nervous System Disease
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020211

Complex Regional Pain Syndrome
type: Class
synonym: Autonomic Hyperreflexia
definition: Conditions characterized by pain involving an extremity or other body region, HYPERESTHESIA, and localized autonomic dysfunction following injury to soft tissue or nerve. The pain is usually associated with ERYTHEMA; SKIN TEMPERATURE changes, abnormal sudomotor activity (i.e., changes in sweating due to altered sympathetic innervation) or edema. The degree of pain and other manifestations is out of proportion to that expected from the inciting event. Two subtypes of this condition have been described: type I; ( REFLEX SYMPATHETIC DYSTROPHY) and type II; (CAUSALGIA) (MeSH).
subclass of: Autonomic Nervous System Disease
created date: 2007-10-05
modified date: 2007-10-05
acronym: CRPS
defining citation: Pain 1995 Oct;63(1):127-33
defining citation URI: http://www.ninds.nih.gov/disorders/reflex_sympathetic_dystrophy/reflex_sympathetic_dystrophy.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020918

Causalgia
type: Class
synonym: Causalgia Syndrome
synonym: Complex Regional Pain Syndrome Type II
synonym: Deafferentation Pain
abbrev: CRPS Type II
definition: A complex regional pain syndrome characterized by burning pain and marked sensitivity to touch ( HYPERESTHESIA) in the distribution of an injured peripheral nerve. Autonomic dysfunction in the form of sudomotor (i.e., sympathetic innervation to sweat glands), vasomotor, and trophic skin changes may also occur (MeSH).
subclass of: Complex Regional Pain Syndrome
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Adams et al., Principles of Neurology, 6th ed, p1359
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D002422

Reflex Sympathetic Dystrophy
type: Class
synonym: Algodystrophic Syndrome
synonym: Algodystrophy
synonym: Cervical Sympathetic Dystrophy
synonym: Complex Regional Pain Syndrome Type I
synonym: Reflex Sympathetic Dystrophy Syndrome
synonym: Shoulder-Hand Syndrome
synonym: Sudek Atrophy
synonym: Sympathetic Reflex Dystrophia
abbrev: CRPS Type I
definition: A syndrome characterized by severe burning pain in an extremity accompanied by sudomotor, vasomotor, and trophic changes in bone without an associated specific nerve injury. This condition is most often precipitated by trauma to soft tissue or nerve complexes. The skin over the affected region is usually erythematous and demonstrates hypersensitivity to tactile stimuli and erythema (MeSH).
subclass of: Complex Regional Pain Syndrome
created date: 2007-10-05
modified date: 2007-10-05
acronym: RSD
defining citation: Adams et al., Principles of Neurology, 6th ed, p1360; Pain 1995 Oct;63(1):127-33
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D012019

Horner Syndrome
type: Class
synonym: Bernard Syndrome
synonym: Claude Bernard-Horner Syndrome
synonym: Miosis, Innervational Defect
synonym: Oculosympathetic Syndrome
synonym: Ptosis Sympathetic
synonym: Sympathetic Ocular-Ophthalmoplegia
definition: A syndrome associated with defective sympathetic innervation to one side of the face, including the eye. Clinical features include MIOSIS; mild BLEPHAROPTOSIS; and hemifacial ANHIDROSIS (decreased sweating)(see HYPOHIDROSIS). Lesions of the BRAIN STEM; cervical SPINAL CORD; first thoracic nerve root; apex of the LUNG; CAROTID ARTERY; CAVERNOUS SINUS; and apex of the ORBIT may cause this condition (MeSH).
subclass of: Autonomic Nervous System Disease
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Miller et al., Clinical Neuro-Ophthalmology, 4th ed, pp500-11
defining citation URI: http://www.ninds.nih.gov/disorders/reflex_sympathetic_dystrophy/reflex_sympathetic_dystrophy.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D006732

Frey Syndrome
type: Class
synonym: Auriculotemporal Syndrome
synonym: Baillarger Syndrome
synonym: Frey's Syndrome
synonym: Freys Syndrome
synonym: Gustatory Hyperhidrosis
synonym: Salivosudoriparous Syndrome
synonym: Sympathetic Ocular-Ophthalmoplegia
synonym: Von Frey Syndrome
synonym: Von Frey's Syndrome
definition: An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with PAROTID NEOPLASMS, or following their surgical removal (MeSH).
subclass of: Autonomic Nervous System Disease
created date: 2007-10-05
modified date: April 11, 2009
defining citation: Ann Neurol 1997 Dec;42(6):973-5
defining citation URI: http://www.ninds.nih.gov/disorders/reflex_sympathetic_dystrophy/reflex_sympathetic_dystrophy.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D013547

Isaacs Syndrome
type: Class
synonym: Acquired Neuromyotonia
synonym: Continuous Muscle Activity Syndrome
synonym: Continuous Myokymia
synonym: Gamstorp-Wohlfart Syndrome
synonym: Isaac Syndrome
synonym: Isaac's Syndrome
synonym: Isaacs-Mertens Syndrome
synonym: Neuromyotonia
synonym: Pseudomyotonia
synonym: Pseudomyotonia Syndrome of Isaacs
synonym: Quantal Squander
definition: A rare neuromuscular disorder with onset usually in late childhood or early adulthood, characterized by intermittent or continuous widespread involuntary muscle contractions; FASCICULATION; hyporeflexia; MUSCLE CRAMP; MUSCLE WEAKNESS; HYPERHIDROSIS; TACHYCARDIA; and MYOKYMIA. Involvement of pharyngeal or laryngeal muscles may interfere with speech and breathing. The continuous motor activity persists during sleep and general anesthesia (distinguishing this condition from STIFF-PERSON SYNDROME). Familial and acquired (primarily autoimmune) forms have been reported (MeSH).
subclass of: Neuromuscular Disease
created date: 2007-10-05
modified date: April 11, 2009
defining citation: Ann NY Acad Sci 1998 May 13;841:482-496; Adams et al., Principles of Neurology, 6th ed, p1491
defining citation URI: http://www.ninds.nih.gov/disorders/isaacs_syndrome/isaacs_syndrome.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020386

Sympathetic Nervous System Diseases
type: Class
subclass of: Autonomic Nervous System Disease
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D001342

Neuromuscular Junction Diseases
type: Class
synonym: Neuromuscular Junction Disorders
synonym: Neuromuscular Transmission Disorders
definition: Conditions characterized by impaired transmission of impulses at the NEUROMUSCULAR JUNCTION. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or ACETYLCHOLINESTERASE activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions (MeSH).
subclass of: Neuromuscular Disease
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020511

Botulism
type: Class
synonym: Toxico-Infectious Botulism
definition: A disease caused by potent protein NEUROTOXINS produced by CLOSTRIDIUM BOTULINUM which interfere with the presynaptic release of ACETYLCHOLINE at the NEUROMUSCULAR JUNCTION. Clinical features include abdominal pain, vomiting, acute PARALYSIS (including respiratory paralysis), blurred vision, and DIPLOPIA. Botulism may be classified into several subtypes (e.g., food-borne, infant, wound, and others) (MeSH).
subclass of: Neuromuscular Junction Diseases
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D001906

Lambert-Eaton Myasthenic Syndrome
type: Class
synonym: Eaton-Lambert Myasthenic Syndrome
synonym: Eaton-Lambert Syndrome
synonym: Lambert-Eaton Syndrome
synonym: Lambert-Eaton's Syndrome
synonym: Myasthenic-Myopathic Syndrome of Eaton-Lambert
synonym: Myasthenic-Myopathic Syndrome of Lambert-Eaton
definition: An autoimmune disease characterized by weakness and fatigability of proximal muscles, particularly of the pelvic girdle, lower extremities, trunk, and shoulder girdle. There is relative sparing of extraocular and bulbar muscles. CARCINOMA, SMALL CELL of the lung is a frequently associated condition, although other malignancies and autoimmune diseases may be associated. Muscular weakness results from impaired impulse transmission at the NEUROMUSCULAR JUNCTION. Presynaptic calcium channel dysfunction leads to a reduced amount of acetylcholine being released in response to stimulation of the nerve (MeSH).
subclass of: Neuromuscular Junction Diseases
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Adams et al., Principles of Neurology, 6th ed, pp 1471
defining citation URI: http://www.ninds.nih.gov/disorders/lambert_eaton/lambert_eaton.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D015624
nif ID: _8.3_9.2

Myasthenia Gravis
type: Class
synonym: Myasthenia Gravis, Generalized
definition: A disorder of neuromuscular transmission characterized by weakness of cranial and skeletal muscles. Autoantibodies directed against acetylcholine receptors damage the motor endplate portion of the NEUROMUSCULAR JUNCTION, impairing the transmission of impulses to skeletal muscles. Clinical manifestations may include diplopia, ptosis, and weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles. THYMOMA is commonly associated with this condition (MeSH).
subclass of: Neuromuscular Junction Diseases
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Adams et al., Principles of Neurology, 6th ed, p1459
defining citation URI: http://www.ninds.nih.gov/disorders/myasthenia_gravis/myasthenia_gravis.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D009157
nif ID: _8.3_9.1

Myasthenia Gravis, Ocular
type: Class
subclass of: Myasthenia Gravis
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D009157

Autoimmune Experimental Myasthenia Gravis
type: Class
synonym: Experimental Myasthenia
synonym: Experimental Myasthenia Gravis
definition: Any autoimmune animal disease model used in the study of MYASTHENIA GRAVIS. Injection with purified neuromuscular junction acetylcholine receptor (AChR) (see RECEPTORS, CHOLINERGIC) components results in a myasthenic syndrome that has acute and chronic phases. The motor endplate pathology, loss of acetylcholine receptors, presence of circulating anti-AChR antibodies, and electrophysiologic changes make this condition virtually identical to human myasthenia gravis (MeSH).
subclass of: Myasthenia Gravis
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Joynt, Clinical Neurology, 1997, Ch 54, p3
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020720
usage note: Passive transfer of AChR antibodies or lymphocytes from afflicted animals to normals induces passive transfer experimental autoimmune myasthenia gravis (i.e., Passive Transfer Experimental Autoimmune Myasthenia Gravis) (MeSH).

Neonatal Myasthenia Gravis
type: Class
synonym: Antenatal Myasthenia Gravis
definition: A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. (MeSH).
subclass of: Myasthenia Gravis
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020941
usage note: In the majority of infants the myasthenic weakness resolves (i.e., Transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., Persistent neonatal myasthenia gravis) (MeSH).

Congenital Myasthenic Syndrome
type: Class
synonym: Congenital Myasthenia Gravis
definition: A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor ( RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction (MeSH).
subclass of: Neuromuscular Junction Diseases
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Arch Neurol 1999 Feb;56(2):163-7
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020294
usage note: Do not confuse with MYASTHENIA GRAVIS, NEONATAL, a transient condition seen in neonates born to myasthenic mothers (MeSH).

Postsynaptic Congenital Myasthenic Syndrome
type: Class
synonym: Slow-Channel Congenital Myasthenic Syndrome
subclass of: Congenital Myasthenic Syndrome
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020294

Presynaptic Congenital Myasthenic Syndrome
type: Class
subclass of: Congenital Myasthenic Syndrome
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020294

Primary nervous system neoplastic disease
type: Class
synonym: Nerve Tissue Neoplasm
synonym: Nervous Tissue Neoplasm
definition: Neoplasms composed of nerve tissue. This concept does not refer to neoplasms located in the nervous system or its component nerves (MeSH).
subclass of: Nervous system neoplastic disease
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D009380
nif ID: _8.3_10.1

Meningioma
type: Class
definition: A relatively common neoplasm of the CENTRAL NERVOUS SYSTEM that arises from arachnoidal cells. The majority are well differentiated vascular tumors which grow slowly and have a low potential to be invasive, although malignant subtypes occur. Meningiomas have a predilection to arise from the parasagittal region, cerebral convexity, sphenoidal ridge, olfactory groove, and SPINAL CANAL (MeSH).
subclass of: Primary nervous system neoplastic disease
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D008579
nif ID: _8.3_10.1.2
usage note: MeSH lists a large variety of Meningioma types categorized largely by anatomic location, histologic characteristics, or benign vs. malignant (i.e.: Angioblastic Meningioma; Angiomatous Meningioma; Benign Meningioma; Cerebral Convexity Meningioma; Clear Cell Meningioma; Fibrous Meningioma; Hemangioblastic Meningioma; Hemangiopericytic Meningioma; Intracranial Meningioma; Intraorbital Meningioma; Intraventricular Meningioma; Malignant Meningioma; Meningiomas, Multiple; Meningiomatosis; Meningotheliomatous Meningioma; Microcystic Meningioma; Olfactory Groove Meningioma; Papillary Meningioma; Parasagittal Meningioma; Posterior Fossa Meningioma; Psammomatous Meningioma; Secretory Meningioma; Sphenoid Wing Meningioma; Spinal Meningioma; Transitional Meningioma; Xanthomatous Meningioma).

Nerve Sheath Neoplasms
type: Class
definition: Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category (MeSH).
subclass of: Primary nervous system neoplastic disease
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D018317

Neurilemmoma
type: Class
synonym: Neurilemmosarcoma
synonym: Neurilemoma
synonym: Neurinoma
synonym: Schwannoma
definition: A neoplasm that arises from SCHWANN CELLS of the cranial, peripheral, and autonomic nerves. Clinically, these tumors may present as a cranial neuropathy, abdominal or soft tissue mass, intracranial lesion, or with spinal cord compression. Histologically, these tumors are encapsulated, highly vascular, and composed of a homogenous pattern of biphasic fusiform-shaped cells that may have a palisaded appearance (MeSH).
subclass of: Neuroma
created date: 2007-10-05
modified date: 2007-10-05
defining citation: DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp964-5
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D009442
usage note: May be benign or malignant.

Neurofibroma
type: Class
definition: A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands (MeSH).
subclass of: Nerve Sheath Neoplasms
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Adams et al., Principles of Neurology, 6th ed, p1016
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D009455
usage note: May be benign or malignant.

Neurofibromatosis
type: Class
synonym: Multiple Neurofibromas
synonym: Neurofibromatosis Syndrome
definition: A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATOSIS 2, neurofibromatosis 3, etc.) have been described (MeSH).
subclass of: Neurofibroma
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Adams et al., Principles of Neurology, 6th ed, p1016
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D017253
usage note: May be benign or malignant.

Neurofibroma, Plexiform
type: Class
synonym: Elephantiasis Neuromatosis
synonym: Pachydermatocele
synonym: Tumor Royale
definition: A type of neurofibroma manifesting as a diffuse overgrowth of subcutaneous tissue, usually involving the face, scalp, neck, and chest but occasionally occurring in the abdomen or pelvis. The tumors tend to progress, and may extend along nerve roots to eventually involve the spinal roots and spinal cord. This process is almost always a manifestation of NEUROFIBROMATOSIS 1 (MeSH).
subclass of: Neurofibroma
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Adams et al., Principles of Neurology, 6th ed, p1016; J Pediatr 1997 Nov;131(5):678-82
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D018318

Neurofibromatosis 1
type: Class
synonym: Neurofibromatosis I
synonym: Neurofibromatosis Type 1
synonym: Neurofibromatosis Type I
synonym: Recklinghausen Disease of Nerve
synonym: von Recklinghausen Disease
definition: An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. A syndrome characterized by the presence of PULMONARY STENOSIS; CAFE-AU-LAIT SPOTS; MENTAL RETARDATION; and short stature caused by mutations in the NF1 gene (GENES, NEUROFIBROMATOSIS 1). There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras ( RAS PROTEINS) (MeSH).
subclass of: Neurofibromatosis
created date: 2007-10-05
modified date: 2007-10-05
acronym: NF1
defining citation: Adams et al., Principles of Neurology, 6th ed, pp1014-18
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D009456

Neurofibromatosis 2
type: Class
synonym: Bilateral Acoustic Neurofibromatosis
synonym: Bilateral Acoustic Neuroma
synonym: Bilateral Acoustic Schwannoma
synonym: Familial Acoustic Neuroma
synonym: Neurofibromatosis II
synonym: Neurofibromatosis Type 2
synonym: Neurofibromatosis Type II
definition: An autosomal dominant disorder characterized by a high incidence of bilateral acoustic neuromas as well as schwannomas ( NEURILEMMOMA) of other cranial and peripheral nerves, and other benign intracranial tumors including meningiomas, ependymomas, spinal neurofibromas, and gliomas. The disease has been linked to mutations of the NF2 gene (GENES, NEUROFIBROMATOSIS 2) on chromosome 22 (22q12) and usually presents clinically in the first or second decade of life.(MeSH).
subclass of: Neurofibromatosis
created date: 2007-10-05
modified date: 2007-10-05
acronym: NF2
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D016518

Neurofibrosarcoma
type: Class
synonym: Neurogenic Sarcoma
definition: A malignant tumor that arises from small cutaneous nerves, is locally aggressive, and has a potential for metastasis. Characteristic histopathologic features include proliferating atypical spindle cells with slender wavy and pointed nuclei, hypocellular areas, and areas featuring organized whorls of fibroblastic proliferation. The most common primary sites are the extremities, retroperitoneum, and trunk. These tumors tend to present in childhood, often in association with NEUROFIBROMATOSIS 1 (MeSH).
subclass of: Nerve Sheath Neoplasms
created date: 2007-10-05
modified date: 2007-10-05
defining citation: DeVita et al., Cancer: Principles & Practice of Oncology, 5th ed, p1662; Mayo Clin Proc 1990 Feb;65(2):164-72
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D018319

Neuroma
type: Class
definition: A tumor made up of nerve cells and nerve fibers (MeSH).
subclass of: Nerve Sheath Neoplasms
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Stedman, 25th ed
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D009463

Neurothekeoma
type: Class
synonym: Myxoma, Nerve Sheath
synonym: Neurotheceoma
synonym: Neurothecoma
definition: A benign myxoma of cutaneous nerve sheath origin. Theke is from the Greek theke, sheath (MeSH).
subclass of: Nerve Sheath Neoplasms
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Stedman, 25th ed
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D018321

Neuroectodermal Neoplasm
type: Class
synonym: Neuroectodermal Tumor
definition: Malignant neoplasms arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells.(MeSH).
subclass of: Primary nervous system neoplastic disease
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D017599

Craniopharyngioma
type: Class
synonym: Rathke Cleft Neoplasm
synonym: Rathke Pouch Tumor
definition: A benign pituitary-region neoplasm that originates from Rathke's pouch. The two major histologic and clinical subtypes are adamantinous (or classical) craniopharyngioma and papillary craniopharyngioma. The adamantinous form presents in children and adolescents as an expanding cystic lesion in the pituitary region. The cystic cavity is filled with a black viscous substance and histologically the tumor is composed of adamantinomatous epithelium and areas of calcification and necrosis. Papillary craniopharyngiomas occur in adults, and histologically feature a squamous epithelium with papillations (MeSH).
subclass of: Primary nervous system neoplastic disease
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D003397

Adamantinous Craniopharyngioma
type: Class
synonym: Craniopharyngioma, Child
definition: The adamantinous form presents in children and adolescents as an expanding cystic lesion in the pituitary region. The cystic cavity is filled with a black viscous substance and histologically the tumor is composed of adamantinomatous epithelium and areas of calcification and necrosis. Papillary craniopharyngiomas occur in adults, and histologically feature a squamous epithelium with papillations (MeSH).
subclass of: Craniopharyngioma
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D003397

Papillary Craniopharyngioma
type: Class
synonym: Craniopharyngioma, Adult
definition: Papillary craniopharyngiomas occur in adults, and histologically feature a squamous epithelium with papillations (MeSH).
subclass of: Craniopharyngioma
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D003397

Neuroepithelial Neoplasm
type: Class
synonym: Neuroepithelial Tumor
definition: Neoplasms composed of neuroepithelial cells, which have the capacity to differentiate into NEURONS, oligodendrocytes, and ASTROCYTES. The majority of craniospinal tumors are of neuroepithelial origin (MeSH).
subclass of: Primary nervous system neoplastic disease
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D018302

Ganglioneuroma
type: Class
synonym: Gangliocytoma
definition: A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. The tumor may present clinically with HORNER SYNDROME or diarrhea due to ectopic production of vasoactive intestinal peptide (MeSH).
subclass of: Primary nervous system neoplastic disease
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D005729

Glioma
type: Class
synonym: Glial Cell Tumor
definition: Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH).
subclass of: Primary nervous system neoplastic disease
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Escourolle et al., Manual of Basic Neuropathology, 2nd ed, p21
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D005910
nif ID: _8.3_10.1.1

Astrocytoma
type: Class
synonym: Astrocytic Glioma
synonym: Astroglioma
definition: Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation (MeSH).
subclass of: Primary nervous system neoplastic disease
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D001254
usage note: The following Entry Terms in MeSH imply a series of sub-types based on anatomical location, developmental onset, histological profile, and neoplastic state: Astrocytoma, Grade I; Astrocytoma, Grade II; Astrocytoma, Grade III; Astrocytoma, Protoplasmic; Astrocytoma, Subependymal Giant Cell; Cerebral Astrocytoma; Childhood Cerebral Astrocytoma; Fibrillary Astrocytoma; Gemistocytic Astrocytoma; Intracranial Astrocytoma; Juvenile Pilocytic Astrocytoma; Oligoastrocytoma, Mixed; Pilocytic Astrocytoma; Subependymal Giant Cell Astrocytoma
scope note: Grades I-III go here, with pathol

Glioblastoma
type: Class
synonym: Astrocytoma, Grade IV
synonym: Giant Cell Glioblastoma
synonym: Glioblastoma Multiforme
definition: A malignant form of astrocytoma histologically characterized by pleomorphism of cells, nuclear atypia, microhemorrhage, and necrosis. They may arise in any region of the central nervous system, with a predilection for the cerebral hemispheres, basal ganglia, and commissural pathways. Clinical presentation most frequently occurs in the fifth or sixth decade of life with focal neurologic signs or seizures (MeSH).
subclass of: Astrocytoma
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D005909
scope note: for GLIOBLASTOMA, RETINAL see RETINOBLASTOMA

Optic Nerve Glioma
type: Class
synonym: Glioblastoma Multiforme
synonym: Malignant Optic Nerve Astrocytoma
synonym: Optic Glioma
definition: Glial cell derived tumors arising from the optic nerve, usually presenting in childhood. Roughly 50% are associated with NEUROFIBROMATOSIS 1. Clinical manifestations include decreased visual acuity; EXOPHTHALMOS; NYSTAGMUS, PATHOLOGIC; STRABISMUS; pallor or swelling of the optic disc; and INTRACRANIAL HYPERTENSION. The tumor may extend into the optic chiasm and hypothalamus (MeSH).
subclass of: Astrocytoma
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Adams et al., Principles of Neurology, 6th ed, p681
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020339

Ependymoma
type: Class
definition: Glioma derived from ependymocytes that tend to present as malignant intracranial tumors in children and as benign intraspinal neoplasms in adults. It may arise from any level of the ventricular system or central canal of the spinal cord. Intracranial ependymomas most frequently originate in the FOURTH VENTRICLE and histologically are densely cellular tumors which may contain ependymal tubules and perivascular pseudorosettes. Spinal ependymomas are usually benign papillary or myxopapillary tumors (MeSH).
subclass of: Glioma
created date: 2007-10-05
modified date: 2007-10-05
defining citation: DeVita et al., Principles and Practice of Oncology, 5th ed, p2018; Escourolle et al., Manual of Basic Neuropathology, 2nd ed, pp28-9
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D004806
usage note: The following Entry Terms in MeSH imply a series of sub-types based on gross anatomy, histological profile, and neoplastic state: Anaplastic Ependymoma; Cellular Ependymoma; Clear Cell Ependymoma; Ependymoma, Myxopapillary; Ependymoma, Papillary; Papillary Ependymoma

Subependymal Glioma
type: Class
synonym: Subependymal Astrocytoma
synonym: Subependymal Gliosis
synonym: Subependymoma
definition: Rare, slow-growing, benign intraventricular tumors, often asymptomatic and discovered incidentally. The tumors are classified histologically as ependymomas and demonstrate a proliferation of subependymal fibrillary astrocytes among the ependymal tumor cells (MeSH).
subclass of: Ependymoma
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Clin Neurol Neurosurg 1997 Feb;99(1):17-22
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D004806
usage note: The following Entry Terms in MeSH imply a series of sub-types based on gross anatomy, histological profile, and neoplastic state: Anaplastic Ependymoma; Cellular Ependymoma; Clear Cell Ependymoma; Ependymoma, Myxopapillary; Ependymoma, Papillary; Papillary Ependymoma

Ganglioglioma
type: Class
definition: Rare indolent tumors comprised of neoplastic glial and neuronal cells which occur primarily in children and young adults. Benign lesions tend to be associated with long survival unless the tumor degenerates into a histologically malignant form. They tend to occur in the optic nerve and white matter of the brain and spinal cord (MeSH).
subclass of: Glioma
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D018303
putative class extension: Benign ganglioglioma
putative class extension: Intracranial ganglioglioma
putative class extension: Malignant ganglioglioma
usage note: MeSH includes qualified subtypes

Gliosarcoma
type: Class
synonym: Glioblastoma with Sarcomatous Component
synonym: Sarcomatous Glioma
definition: Rare mixed tumors of the brain and rarely the spinal cord which contain malignant neuroectodermal (glial) and mesenchymal components, including spindle-shaped fibrosarcoma cells. These tumors are highly aggressive and present primarily in adults as rapidly expanding mass lesions. They may arise in tissue that has been previously irradiated (MeSH).
subclass of: Glioma
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Br J Neurosurg 1995 Apr;9(2):171-8
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D018316

Medulloblastoma
type: Class
synonym: Medullomyoblastoma
definition: A malignant neoplasm that may be classified either as a glioma or as a primitive neuroectodermal tumor of childhood (see NEUROECTODERMAL TUMOR, PRIMITIVE). The tumor occurs most frequently in the first decade of life with the most typical location being the cerebellar vermis. Histologic features include a high degree of cellularity, frequent mitotic figures, and a tendency for the cells to organize into sheets or form rosettes. Medulloblastoma have a high propensity to spread throughout the craniospinal intradural axis (MeSH).
subclass of: Glioma
created date: 2007-10-05
modified date: 2007-10-05
defining citation: DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2060-1
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D008527
putative class extension: Adult medulloblastoma
putative class extension: Childhood medulloblastoma
putative class extension: Circumscribed arachnoidal cerebellar sarcoma
putative class extension: Desmoplastic medulloblastoma
putative class extension: Melanocytic medulloblastoma
usage note: MeSH includes qualified subtypes

Oligodendroglioma
type: Class
synonym: Mixed Oligodendroglioma-Astrocytoma
synonym: Mixed Oligodendroglioma-Ependymoma
synonym: Oligodendroblastoma
definition: A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms (MeSH).
subclass of: Glioma
created date: 2007-10-05
modified date: 2007-10-05
defining citation: DeVita et al., Cancer: Principles and Practice of Oncology, 5th edOncology, p2052; Adams et al., Principles of Neurology, 6th ed, p655
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D009837
putative class extension: Adult oligodendroglioma
putative class extension: Anaplastic oligodendroglioma
putative class extension: Childhood oligodendroglioma
putative class extension: Well-differentiated oligodendroglioma
usage note: MeSH includes qualified subtypes

Neurocytoma
type: Class
synonym: Central Neurocytoma
definition: A benign brain tumor composed of neural elements which most often arise from the SEPTUM PELLUCIDUM and the walls of the lateral ventricles. Immunohistochemistry and electron microscopy evaluations may reveal expression of neuron specific enolase and synaptophysin and cells containing microtubuli, neurosecretory granules, and presynaptic vesicles (MeSH).
subclass of: Primary nervous system neoplastic disease
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Acta Med Port 1994 Feb;7(2):113-9
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D018306

Primitive Neuroectodermal Neoplasm
type: Class
synonym: Primitive Neuroectodermal Tumor
synonym: Primitive Neuroepithelial Neoplasm
synonym: Primitive Neuroepithelial Tumor
definition: A group of malignant tumors of the nervous system that feature primitive cells with elements of neuronal and/or glial differentiation. Use of this term is limited by some authors to central nervous system tumors and others include neoplasms of similar origin which arise extracranially (i.e., NEUROECTODERMAL TUMORS, PRIMITIVE, PERIPHERAL). This term is also occasionally used as a synonym for MEDULLOBLASTOMA. In general, these tumors arise in the first decade of life and tend to be highly malignant (MeSH).
subclass of: Primary nervous system neoplastic disease
created date: 2007-10-05
modified date: 2007-10-05
acronym: PNET
defining citation: DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2059
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D018242
putative class extension: Ependymoblastoma
putative class extension: Medulloepithelioma
putative class extension: Spongioblastoma
usage note: MeSH includes qualified subtypes.

Peripheral Primitive Neuroectodermal Neoplasm
type: Class
synonym: Extracranial Primitive Neuroectodermal Tumor
synonym: Neuroepithelioma
synonym: Peripheral Neuroectodermal Tumor
synonym: Peripheral Primitive Neuroectodermal Tumor
definition: A group of highly cellular primitive round cell neoplasms which occur extracranially in soft tissue and bone and are derived from embryonal neural crest cells. These tumors occur primarily in children and adolescents and share a number of characteristics with Ewing's Sarcoma ( SARCOMA, EWING'S). They may arise from the chest wall, skin, orbit, kidney, and other structures and tend to be locally invasive or metastasize, although relatively benign forms may occur. Characteristic histologic features include a tendency to form Homer-Wright rosettes and to stain positively with neuron-specific enolase and vimentin (MeSH).
subclass of: Primitive Neuroectodermal Neoplasm
created date: 2007-10-05
modified date: 2007-10-05
acronym: pPNET
defining citation: DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2113; J Clin Oncol 1998 Mar;16(3):1150-7
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D018241

Neuroblastoma
type: Class
definition: A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome (MeSH).
subclass of: Peripheral Primitive Neuroectodermal Neoplasm
created date: 2007-10-05
modified date: 2007-10-05
defining citation: DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2099-2101; Curr Opin Oncol 1998 Jan;10(1):43-51
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D009447

Olfactory Esthesioneuroblastoma
type: Class
synonym: Aesthesioneuroblastoma
synonym: Esthesioneuroblastoma
synonym: Olfactory Neuroblastoma
synonym: Paranasal Sinus-Nasal Cavity Esthesioneuroblastoma
definition: A malignant olfactory neuroblastoma arising from the olfactory epithelium of the superior nasal cavity and cribriform plate. It is uncommon (3% of nasal tumors) and rarely is associated with the production of excess hormones (e.g., SIADH, Cushing Syndrome). It has a high propensity for multiple local recurrences and bony metastases (MeSH).
subclass of: Neuroblastoma
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Holland et al., Cancer Medicine, 3rd ed, p1245; J Laryngol Otol 1998 Jul;112(7):628-33
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D018304

Ganglioneuroblastoma
type: Class
definition: A moderately malignant neoplasm composed of primitive neuroectodermal cells dispersed in myxomatous or fibrous stroma intermixed with mature ganglion cells. It may undergo transformation into a neuroblastoma. It arises from the sympathetic trunk or less frequently from the adrenal medulla, cerebral cortex, and other locations. Cervical ganglioneuroblastomas may be associated with HORNER SYNDROME and the tumor may occasionally secrete vasoactive intestinal peptide, resulting in chronic diarrhea (MeSH).
subclass of: Neuroblastoma
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D018305

Pinealoma
type: Class
synonym: Pineal Neoplasm
synonym: Pineal Parenchymal Tumor
synonym: Pineal Tumor
synonym: Pinealocytoma
synonym: Pineoblastoma
synonym: Pineocytoma
definition: Neoplasms which originate from pineal parenchymal cells that tend to enlarge the gland and be locally invasive. The two major forms are pineocytoma and the more malignant pineoblastoma. Pineocytomas have moderate cellularity and tend to form rosette patterns. Pineoblastomas are highly cellular tumors containing small, poorly differentiated cells. These tumors occasionally seed the neuroaxis or cause obstructive HYDROCEPHALUS or Parinaud's syndrome. GERMINOMA; CARCINOMA, EMBRYONAL; GLIOMA; and other neoplasms may arise in the pineal region with germinoma being the most common pineal region tumor (MeSH).
subclass of: Primary nervous system neoplastic disease
created date: 2007-10-05
modified date: 2007-10-05
defining citation: DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2064; Adams et al., Principles of Neurology, 6th ed, p670
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D010871

Retinoblastoma
type: Class
synonym: Retinal Glioblastoma
synonym: Retinal Glioma
synonym: Retinal Neuroblastoma
definition: A malignant tumor arising from the nuclear layer of the retina that is the most common primary tumor of the eye in children. The tumor tends to occur in early childhood or infancy and may be present at birth. The majority are sporadic, but the condition may be transmitted as an autosomal dominant trait. Histologic features include dense cellularity, small round polygonal cells, and areas of calcification and necrosis. An abnormal pupil reflex (leukokoria); NYSTAGMUS, PATHOLOGIC; STRABISMUS; and visual loss represent common clinical characteristics of this condition (MeSH).
subclass of: Primary nervous system neoplastic disease
created date: 2007-10-05
modified date: 2007-10-05
defining citation: DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2104
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D012175

Familial Retinoblastoma
type: Class
synonym: Hereditary Retinoblastoma
subclass of: Retinoblastoma
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D012175

Sporadic Retinoblastoma
type: Class
subclass of: Retinoblastoma
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: MeSH
mesh uid: D012175

Dyskinesia
type: Class
synonym: Abnormal Movements
synonym: Asterixis
synonym: Ballismus
synonym: Hemiballism
synonym: Hemiballismus
synonym: Involuntary Movements
definition: Abnormal involuntary movements which primarily affect the extremities, trunk, or jaw that occur as a manifestation of an underlying disease process. Conditions which feature recurrent or persistent episodes of dyskinesia as a primary manifestation of disease may be referred to as dyskinesia syndromes (see MOVEMENT DISORDERS). Dyskinesias are also a relatively common manifestation of BASAL GANGLIA DISEASES (MeSH).
subclass of: Nervous system disease
editorial note: May need to create a "malfunction" dependent_continuant or disposition to accomodate most of the Dyskinesias which are more functional presenting signs in a complex disease process than a disease in and of themselves (BB:2007-10-05).
editorial note: Note BIRNLex seeks to evolve a core subsumptive disease hierarchy based first on the effected function, then the effected structure, the latter for those categories of nervous system disease that have typically been associated with structural abnormalities or trauma (e.g., Motor neuron diseases, cerebrovascular trauma, etc.). Disease causation is in fact the ultimate goal of much biomedical research, and our recognitition of ALL the driving causes of a particular disease - and the ways in which these causes inter-relate with each other and with effected structures to cause a change in normal function is a critical representational task BIRNlex will increasingly take on to provide an evolving, nuanced functional reconstruction of disease as a process and an outcome. These relations will be represented using OWL ObjectProperties. Function is the most sensible context to drive the asserted subsumptive hierarchy for representing nervous system disease, since it is with the clinical description of altered, impaired, decreased, or lost function that the diagnosis - and the research - of disease is rooted. Much has already been described regarding both the effected biomaterial entities and the causes of disease. However, it is because understanding of such relations still is far from comprehensive, that biomedical investigation into nervous system disease continues. Finally, given the "realist" ontology design approach being used to construct BIRNLex, function must be represented as inhering in some biomaterial entity from molecules and their controlling elements on up through gross anatomical structures. Over time, BIRNLex will provide the required relations to depict these functionally-related structures for both the normal and pathological function of the nervous system. This will be true both for the causes and for the outcomes of nervous system disease. Initial work to extend this expressive representation will focus on the neurodegenerative diseases being studied by …
created date: 2007-10-05
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020820
nif ID: _8.3_2.3

Ataxia
type: Class
definition: Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions (MeSH).
subclass of: Dyskinesia
created date: 2007-10-05
modified date: 2007-10-05
defining citation URI: http://www.ninds.nih.gov/disorders/ataxia/ataxia.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D001259
nif ID: _8.3_2.4

Paresis
type: Class
definition: A general term referring to a mild to moderate degree of muscular weakness, occasionally used as a synonym for PARALYSIS (severe or complete loss of motor function). In the older literature, paresis often referred specifically to paretic neurosyphilis (see NEUROSYPHILIS). "General paresis" and "general paralysis" may still carry that connotation. Bilateral lower extremity paresis is referred to as PARAPARESIS (MeSH).
subclass of: Nervous system disease
editorial note: Note BIRNLex seeks to evolve a core subsumptive disease hierarchy based first on the effected function, then the effected structure, the latter for those categories of nervous system disease that have typically been associated with structural abnormalities or trauma (e.g., Motor neuron diseases, cerebrovascular trauma, etc.). Disease causation is in fact the ultimate goal of much biomedical research, and our recognitition of ALL the driving causes of a particular disease - and the ways in which these causes inter-relate with each other and with effected structures to cause a change in normal function is a critical representational task BIRNlex will increasingly take on to provide an evolving, nuanced functional reconstruction of disease as a process and an outcome. These relations will be represented using OWL ObjectProperties. Function is the most sensible context to drive the asserted subsumptive hierarchy for representing nervous system disease, since it is with the clinical description of altered, impaired, decreased, or lost function that the diagnosis - and the research - of disease is rooted. Much has already been described regarding both the effected biomaterial entities and the causes of disease. However, it is because understanding of such relations still is far from comprehensive, that biomedical investigation into nervous system disease continues. Finally, given the "realist" ontology design approach being used to construct BIRNLex, function must be represented as inhering in some biomaterial entity from molecules and their controlling elements on up through gross anatomical structures. Over time, BIRNLex will provide the required relations to depict these functionally-related structures for both the normal and pathological function of the nervous system. This will be true both for the causes and for the outcomes of nervous system disease. Initial work to extend this expressive representation will focus on the neurodegenerative diseases being studied by …
created date: 2007-11-18
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D010291
putative class extension: Brachial Paresis
putative class extension: Crural Paresis
putative class extension: Hemiparesis
putative class extension: Lower Extremity Paresis
putative class extension: Monoparesis
putative class extension: Muscle Paresis
putative class extension: Muscular Paresis
putative class extension: Upper Extremity Paresis
usage note: MeSH includes qualified subtypes

Paralysis
type: Class
synonym: Palsy
synonym: Plegia
definition: Severe loss of motor function as compared with PARESIS, a slight loss; GENERAL PARALYSIS see NEUROSYPHILIS does not mean "generalized paralysis" ( = PARALYSIS); spastic paralysis = PARALYSIS (IM) + MUSCLE SPASTICITY (NIM); flaccid paralysis = PARALYSIS (IM) + MUSCLE FLACCIDITY (NIM) (MeSH).
subclass of: Nervous system disease
editorial note: Note BIRNLex seeks to evolve a core subsumptive disease hierarchy based first on the effected function, then the effected structure, the latter for those categories of nervous system disease that have typically been associated with structural abnormalities or trauma (e.g., Motor neuron diseases, cerebrovascular trauma, etc.). Disease causation is in fact the ultimate goal of much biomedical research, and our recognitition of ALL the driving causes of a particular disease - and the ways in which these causes inter-relate with each other and with effected structures to cause a change in normal function is a critical representational task BIRNlex will increasingly take on to provide an evolving, nuanced functional reconstruction of disease as a process and an outcome. These relations will be represented using OWL ObjectProperties. Function is the most sensible context to drive the asserted subsumptive hierarchy for representing nervous system disease, since it is with the clinical description of altered, impaired, decreased, or lost function that the diagnosis - and the research - of disease is rooted. Much has already been described regarding both the effected biomaterial entities and the causes of disease. However, it is because understanding of such relations still is far from comprehensive, that biomedical investigation into nervous system disease continues. Finally, given the "realist" ontology design approach being used to construct BIRNLex, function must be represented as inhering in some biomaterial entity from molecules and their controlling elements on up through gross anatomical structures. Over time, BIRNLex will provide the required relations to depict these functionally-related structures for both the normal and pathological function of the nervous system. This will be true both for the causes and for the outcomes of nervous system disease. Initial work to extend this expressive representation will focus on the neurodegenerative diseases being studied by …
created date: 2007-10-05
modified date: 2007-11-18
defining citation: Adams et al., Principles of Neurology, 6th ed, p45
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D010243
nif ID: _8.3_2.3
putative class extension: Todd Paralysis
usage note: MeSH includes qualified subtypes

Metastatic nervous system neoplastic disease
type: Class
definition: Neoplasms not composed of nerve tissue located in the nervous system or its component nerves.
subclass of: Nervous system neoplastic disease
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
nif ID: _8.3_10.2

Nervous System Paraneoplastic Syndrome
type: Class
definition: Degenerative or inflammatory conditions affecting the central or peripheral nervous system that develop in association with a systemic neoplasm without direct invasion by tumor. They may be associated with circulating antibodies that react with the affected neural tissue (MeSH).
subclass of: Neurodegenerative disease
editorial note: Note that all of teh progeny of this class are in fact neurodegenerative diseases. In holding with the "realist" orientation and the effort to represent the CORE subsumptive hierarchy as a related set of functional or function-structure classes - as opposed to using causal relations to specify nervous system disease - Nervous System Paraneoplastic Syndromes have been made a sub-class of neurodegerative disease as opposed to metastatic nervous system neoplastic disease. Causal relations - such as specify a specific neoplastic condition as the cause for the resulting degeration of nervous system structure and function - will be provided via ObjectProperties. Certain disorders which are in fact Nervous System Paraneoplastic Syndromes - e.g., Lambert-Eaton Myasthenic Syndrome, Transverse Myelitis, Opsoclonus-Myoclonus Syndrome - are left as children of the functional disease categories based on the affected function (BB: 2007-10-06).
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Intern Med 1996 Dec;35(12):925-9
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020361
nif ID: _8.3_10.3
putative class extension: Paraneoplastic Autonomic Dysfunction
putative class extension: Paraneoplastic Encephalomyelitis
usage note: MeSH includes qualified subtypes

Limbic Encephalitis
type: Class
synonym: Paraneoplastic Limbic Encephalitis
definition: A paraneoplastic syndrome marked by degeneration of neurons in the medial temporal lobe. Clinical features include behavioral changes, HALLUCINATIONS, loss of short term memory, anosmia, AGEUSIA, and DEMENTIA. Circulating anti-neuronal antibodies (anti-Hu; also called ANNA 1) and small cell lung carcinomas are frequently associated with this condition (MeSH).
subclass of: Nervous System Paraneoplastic Syndrome
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Pathologe 1997 Sep;18(5):406-10; J Int Neuropsychol Soc 1996 Sep;2(5):460-6; Brain 1997 Jun;120(Pt 6):923-8
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020363

Paraneoplastic Cerebellar Degeneration
type: Class
synonym: Paraneoplastic Cerebellar Syndrome
definition: Cerebellar degeneration associated with a remote neoplasm. Clinical manifestations include progressive limb and GAIT ATAXIA; DYSARTHRIA; and NYSTAGMUS, PATHOLOGIC. The histologic type of the associated neoplasm is usually carcinoma or lymphoma. Pathologically the cerebellar cortex and subcortical nuclei demonstrate diffuse degenerative changes. Anti-Purkinje cell antibodies (anti-Yo) are found in the serum of approximately 50% of affected individuals (MeSH).
subclass of: Nervous System Paraneoplastic Syndrome
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Adams et al., Principles of Neurology, 6th ed, p686
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020362
putative class extension: Anti-Yo-Associated Paraneoplastic Cerebellar Degeneration
usage note: MeSH includes qualified subtypes

Paraneoplastic Polyneuropathy
type: Class
synonym: Paraneoplastic Neuropathy
synonym: Paraneoplastic Peripheral Neuropathy
definition: A diffuse or multifocal peripheral neuropathy related to the remote effects of a neoplasm, most often carcinoma or lymphoma. Pathologically, there are inflammatory changes in peripheral nerves. The most common clinical presentation is a symmetric distal mixed sensorimotor polyneuropathy (MeSH).
subclass of: Nervous System Paraneoplastic Syndrome
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Adams et al., Principles of Neurology, 6th ed, p1334
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020364

Cerebellar Ataxia
type: Class
synonym: Adiadochokinesis
synonym: Cerebellar Dysmetria
synonym: Cerebellar Hemiataxia
synonym: Cerebellar Incoordination
synonym: Dysmetria
definition: Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA (MeSH).
subclass of: Ataxia
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Adams et al., Principles of Neurology, 6th ed, p90
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D002524

Spinocerebellar Ataxia
type: Class
synonym: Dominantly-Inherited Spinocerebellar Ataxia
synonym: Spinocerebellar Atrophy
definition: A group of dominantly inherited, predominatly late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop (MeSH).
subclass of: Cerebellar Ataxia
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43
defining citation URI: http://www.ninds.nih.gov/disorders/ataxia/ataxia.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020754
putative class extension: Spinocerebellar Ataxia Type 1
putative class extension: Spinocerebellar Ataxia Type 2
putative class extension: Spinocerebellar Ataxia Type 4
putative class extension: Spinocerebellar Ataxia Type 5
putative class extension: Spinocerebellar Ataxia Type 6
putative class extension: Spinocerebellar Ataxia Type 7
usage note: MeSH includes qualified subtypes

Ataxia Telangiectasia
type: Class
synonym: Ataxia Telangiectasia Syndrome
synonym: Louis-Bar Syndrome
definition: An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23) (MeSH).
subclass of: Spinocerebellar Ataxia
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Menkes, Textbook of Child Neurology, 5th ed, p688
defining citation URI: http://www.ninds.nih.gov/disorders/a_t/a-t.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D001260

Machado-Joseph Disease
type: Class
synonym: Autosomal Dominant Striatonigral Degeneration
synonym: Joseph Azorean Disease
synonym: Joseph Disease
synonym: Joseph's Disease
synonym: Josephs Disease
synonym: Machado-Joseph Azorean Disease
synonym: Machado-Joseph's Disease
synonym: Machado-Josephs Disease
synonym: Nervous System Azorean Disease
synonym: Spinocerebellar Ataxia Type 3
definition: A dominantly-inherited ATAXIA first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and Australia. This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia, DYSARTHRIA, postural instability, nystagmus, eyelid retraction, and facial FASCICULATIONS. DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). Type II features ataxia and ocular signs; Type III features MUSCULAR ATROPHY and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy (MeSH).
subclass of: Spinocerebellar Ataxia
created date: 2007-10-05
modified date: April 11, 2009
defining citation: Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96
defining citation URI: http://www.ninds.nih.gov/disorders/machado_joseph/machado_joseph.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D017827
putative class extension: Machado-Joseph Disease Type I
putative class extension: Machado-Joseph Disease Type II
putative class extension: Machado-Joseph Disease Type III
putative class extension: Machado-Joseph Disease Type IV
usage note: MeSH includes qualified subtypes

Gait Ataxia
type: Class
synonym: Ataxia of Gait
synonym: Cerebellar Gait
synonym: Cerebellar Gait Ataxia
definition: Impairment of the ability to coordinate the movements required for normal ambulation ( WALKING) which may result from impairments of motor function or sensory feedback. This condition may be associated with BRAIN DISEASES (including CEREBELLAR DISEASES and BASAL GANGLIA DISEASES); SPINAL CORD DISEASES; or PERIPHERAL NERVOUS SYSTEM DISEASES (MeSH).
subclass of: Ataxia
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020234

Athetosis
type: Class
synonym: Athetoid Movements
synonym: Hammond Disease
synonym: Hammond's Disease
synonym: Hammonds Disease
definition: A dyskinesia characterized by an inability to maintain the fingers, toes, tongue, or other body parts in a stable position, resulting in continuous slow, sinusoidal, and flowing involuntary movements. This condition is frequently accompanied by CHOREA, where it is referred to as choreoathetosis. Athetosis may occur as a manifestation of BASAL GANGLIA DISEASES or DRUG TOXICITY (MeSH).
subclass of: Dyskinesia
created date: 2007-10-05
modified date: April 11, 2009
defining citation: Adams et al., Principles of Neurology, 6th ed, p76
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D001264

Catalepsy
type: Class
synonym: Anochlesia
synonym: Cerea Flexibilitas
synonym: Flexibility, Waxy
definition: A condition characterized by inactivity, decreased responsiveness to stimuli, and a tendency to maintain an immobile posture. The limbs tend to remain in whatever position they are placed (waxy flexibility). Catalepsy may be associated with PSYCHOTIC DISORDERS (e.g., SCHIZOPHRENIA, CATATONIC), nervous system drug toxicity, and other conditions (MeSH).
subclass of: Dyskinesia
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D002375

Chorea
type: Class
synonym: Choreic Movement
synonym: Choreiform Movement
definition: Involuntary, forcible, rapid, jerky movements that may be subtle or become confluent, markedly altering normal patterns of movement. Hypotonia and pendular reflexes are often associated. Conditions which feature recurrent or persistent episodes of chorea as a primary manifestation of disease are referred to as CHOREATIC DISORDERS. Chorea is also a frequent manifestation of BASAL GANGLIA DISEASES (MeSH).
subclass of: Dyskinesia
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D002819
usage note: choreoathetosis = CHOREA (IM) + ATHETOSIS (IM); MORVAN'S CHOREA see MYOKYMIA and CHOREATIC DISORDERS are also available

Dystonia
type: Class
synonym: Muscle Dystonia
definition: A persistent attitude or posture due to the co-contraction of agonists and antagonist muscles in one region of the body. It most often affects the large axial muscles of the trunk and limb girdles. Conditions which feature persistent or recurrent episodes of dystonia as a primary manifestation of disease are referred to as DYSTONIC DISORDERS (MeSH).
subclass of: Dyskinesia
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Adams et al., Principles of Neurology, 6th ed, p77
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D004421
putative class extension: Diurnal Dystonia
putative class extension: Limb Dystonia
putative class extension: Paroxysmal Dystonia
usage note: Do not confuse with MUSCLE HYPERTONIA or MUSCLE HYPOTONIA; DYSTONIC DISORDERS is available
usage note: MeSH includes qualified subtypes

Torticollis
type: Class
synonym: Cervical Dystonia
synonym: Wryneck
definition: A common form of DYSTONIA due to involuntary sustained or spasmodic, repetitive muscle contractions in the neck region. According to the position of the twisted neck and head, cervical dystonia can be categorized as torticollis, laterocollis, retrocollis, and a combination of these abnormal postures; A symptom, not a disease, of a twisted neck. In most instances, the head is tipped toward one side and the chin rotated toward the other. The involuntary muscle contractions in the neck region of patients with torticollis can be due to congenital defects, trauma, inflammation, tumors, and neurological or other factors. (MeSH).
subclass of: Dystonia
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D014103
putative class extension: Intermittent Torticollis
putative class extension: Psychogenic Torticollis
putative class extension: Spasmodic Torticollis
usage note: MeSH includes qualified subtypes

Hyperkinesis
type: Class
synonym: Generalized Hyperkinesia
synonym: Hyperkinesia
synonym: Hyperkinetic Movements
synonym: Motor Hyperactivity
definition: Excessive movement of muscles of the body as a whole, which may be associated with organic or psychological disorders (MeSH).
subclass of: Dyskinesia
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D006948
scope note: Do not confuse with MYOKYMIA or ISAACS SYNDROME

Hypokinesia
type: Class
synonym: Bradykinesia
synonym: Hypodynamia
definition: Slow or diminished movement of body musculature. It may be associated with BASAL GANGLIA DISEASES; MENTAL DISORDERS; prolonged inactivity due to illness; and other conditions (MeSH).
subclass of: Dyskinesia
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D018476
putative class extension: Antiorthostatic Hypokinesia
usage note: MeSH includes qualified subtypes

Myoclonus
type: Class
synonym: Myoclonic Jerking
definition: Involuntary shock-like contractions, irregular in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles. This condition may be a feature of some CENTRAL NERVOUS SYSTEM DISEASES; (e.g., EPILEPSY, MYOCLONIC). Nocturnal myoclonus is the principal feature of the NOCTURNAL MYOCLONUS SYNDROME (MeSH).
subclass of: Dyskinesia
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D009207
putative class extension: Action Myoclonus
putative class extension: Eyelid Myoclonus
putative class extension: Intention Myoclonus
putative class extension: Lower Extremity Myoclonus
putative class extension: Myoclonus Simplex
putative class extension: Nocturnal Myoclonus
putative class extension: Oculopalatal Myoclonus
putative class extension: Palatal Myoclonus
putative class extension: Polymyoclonus
putative class extension: Segmental Myoclonus
putative class extension: Sleep Myoclonus
putative class extension: Upper Extremity Myoclonus
usage note: MeSH includes qualified subtypes
scope note: For "myoclonic seizure" consider MYOCLONUS or EPILEPSY, MYOCLONIC or SPASMS, INFANTILE; note other myoclonus terms are also available

Opsoclonus-Myoclonus Syndrome
type: Class
synonym: Dancing Eyes-Dancing Feet Syndrome
synonym: Kinsbourne Syndrome
synonym: Opsoclonus Myoclonus Ataxia
synonym: Paraneoplastic Opsoclonus-Myoclonus Ataxia
definition: A neurological condition that is characterized by uncontrolled rapid irregular movements of the eye ( OPSOCLONUS) and the muscle ( MYOCLONUS) causing unsteady, trembling gait. It is also known as dancing eyes-dancing feet syndrome and is often associated with neoplasms, viral infections, or autoimmune disorders involving the nervous system (MeSH).
subclass of: Dyskinesia
created date: 2007-10-05
modified date: 2007-10-05
defining citation URI: http://www.ninds.nih.gov/disorders/opsoclonus_myoclonus/opsoclonus_myoclonus.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D053578

Psychomotor Agitation
type: Class
synonym: Akathisia
synonym: Psychomotor Excitement
synonym: Psychomotor Hyperactivity
synonym: Psychomotor Restlessness
synonym: Restlessness
definition: A feeling of restlessness associated with increased motor activity. This may occur as a manifestation of nervous system drug toxicity or other conditions (MeSH).
subclass of: Dyskinesia
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D011595
scope note: Do not confuse X ref AKATHISIA with AKATHISIA, DRUG-INDUCED: see note there

Synkinesis
type: Class
definition: An involuntary movement accompanying a volitional movement. It often refers to facial movements that accompany FACIAL PARALYSIS (MeSH).
subclass of: Dyskinesia
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D046608

Tic
type: Class
synonym: Habit Chorea
synonym: Habit Spasm
synonym: Habituation Spasm
definition: Habitual, repeated, rapid contraction of certain muscles, resulting in stereotyped individualized actions that can be voluntarily suppressed for only brief periods. They often involve the face, vocal cords, neck, and less often the extremities. Examples include repetitive throat clearing, vocalizations, sniffing, pursing the lips, and excessive blinking. Tics tend to be aggravated by emotional stress. When frequent they may interfere with speech and INTERPERSONAL RELATIONS. Conditions which feature frequent and prominent tics as a primary manifestation of disease are referred to as TIC DISORDERS (MeSH).
subclass of: Dyskinesia
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Adams et al., Principles of Neurology, 6th ed, pp109-10
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020323
putative class extension: Motor Tic
putative class extension: Transient Tic
putative class extension: Vocal Tic
usage note: MeSH includes qualified subtypes

Tremor
type: Class
definition: Cyclical movement of a body part that can represent either a physiologic process or a manifestation of disease. Intention or action tremor, a common manifestation of CEREBELLAR DISEASES, is aggravated by movement. In contrast, resting tremor is maximal when there is no attempt at voluntary movement, and occurs as a relatively frequent manifestation of PARKINSON DISEASE (MeSH).
subclass of: Dyskinesia
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D014202
putative class extension: Action Tremor
putative class extension: Coarse Tremor
putative class extension: Continuous Tremor
putative class extension: Darkness Tremor
putative class extension: Fine Tremor
putative class extension: Intention Tremor
putative class extension: Intermittent Tremor
putative class extension: Involuntary Quiver
putative class extension: Limb Tremor
putative class extension: Massive Tremor
putative class extension: Muscle Tremor
putative class extension: Neonatal Tremor
putative class extension: Nerve Tremor
putative class extension: Passive Tremor
putative class extension: Perioral Tremor
putative class extension: Persistent Tremor
putative class extension: Pill Rolling Tremor
putative class extension: Rest Tremor
putative class extension: Resting Tremor
putative class extension: Saturnine Tremor
putative class extension: Semirhythmic Tremor
putative class extension: Senile Tremor
putative class extension: Static Tremor
usage note: MeSH includes qualified subtypes

Nervous System Trauma
type: Class
synonym: Craniocervical Injury
synonym: Nervous System Injury
definition: Traumatic injuries to the brain, cranial nerves, spinal cord, autonomic nervous system, or neuromuscular system, including iatrogenic injuries induced by surgical procedures (MeSH).
subclass of: Nervous system disease
editorial note: Note BIRNLex seeks to evolve a core subsumptive disease hierarchy based first on the effected function, then the effected structure, the latter for those categories of nervous system disease that have typically been associated with structural abnormalities or trauma (e.g., Motor neuron diseases, cerebrovascular trauma, etc.). Disease causation is in fact the ultimate goal of much biomedical research, and our recognitition of ALL the driving causes of a particular disease - and the ways in which these causes inter-relate with each other and with effected structures to cause a change in normal function is a critical representational task BIRNlex will increasingly take on to provide an evolving, nuanced functional reconstruction of disease as a process and an outcome. These relations will be represented using OWL ObjectProperties. Function is the most sensible context to drive the asserted subsumptive hierarchy for representing nervous system disease, since it is with the clinical description of altered, impaired, decreased, or lost function that the diagnosis - and the research - of disease is rooted. Much has already been described regarding both the effected biomaterial entities and the causes of disease. However, it is because understanding of such relations still is far from comprehensive, that biomedical investigation into nervous system disease continues. Finally, given the "realist" ontology design approach being used to construct BIRNLex, function must be represented as inhering in some biomaterial entity from molecules and their controlling elements on up through gross anatomical structures. Over time, BIRNLex will provide the required relations to depict these functionally-related structures for both the normal and pathological function of the nervous system. This will be true both for the causes and for the outcomes of nervous system disease. Initial work to extend this expressive representation will focus on the neurodegenerative diseases being studied by …
created date: 2007-10-05
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020196
nif ID: _8.3_12

Cerebrovascular Trauma
type: Class
synonym: Vascular Brain Injury
synonym: Vascular Brain Trauma
definition: Penetrating and nonpenetrating traumatic injuries to an extracranial or intracranial blood vessel that supplies the brain. This includes the CAROTID ARTERIES, vertebral arteries ( VERTEBRAL ARTERY), and intracranial arteries, veins, and venous sinuses (MeSH).
subclass of: Nervous System Trauma
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020214

Craniocerebral Trauma
type: Class
synonym: Craniocerebral Injury
synonym: Head Injury
synonym: Head Trauma
definition: Traumatic injuries involving the cranium and intracranial structures (i.e., BRAIN; CRANIAL NERVES; MENINGES; and other structures). Injuries may be classified by whether or not the skull is penetrated (i.e., penetrating vs. nonpenetrating) or whether there is an associated hemorrhage (MeSH).
subclass of: Nervous System Trauma
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D006259
putative class extension: Crushing Skull Injury
putative class extension: Forehead Trauma
putative class extension: Frontal Region Trauma
putative class extension: Minor Head Injury
putative class extension: Multiple Head Injury
putative class extension: Occipital Region Trauma
putative class extension: Open Head Injury
putative class extension: Parietal Region Trauma
putative class extension: Superficial Head Injury
putative class extension: Temporal Region Trauma
usage note: MeSH includes qualified subtypes based on the severity, invasiveness, or gross anatomical location of the head injury

Spinal Cord Trauma
type: Class
synonym: Spinal Cord Injury
definition: Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces (e.g., WOUNDS, GUNSHOT; WHIPLASH INJURIES; etc.) (MeSH).
subclass of: Nervous System Trauma
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D013119
putative class extension: Post-Traumatic Myelopathy
putative class extension: Spinal Cord Contusion
putative class extension: Spinal Cord Laceration
putative class extension: Spinal Cord Transection
putative class extension: Traumatic Myelopathy
usage note: MeSH includes qualified subtypes based on the severity or invasiveness of the spinal cord injury

Mental Disorder
type: Class
synonym: Behavior Disorder
synonym: Psychiatric Disorder
definition: Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH).
subclass of: Nervous system disease
editorial note: Note BIRNLex seeks to evolve a core subsumptive disease hierarchy based first on the effected function, then the effected structure, the latter for those categories of nervous system disease that have typically been associated with structural abnormalities or trauma (e.g., Motor neuron diseases, cerebrovascular trauma, etc.). Disease causation is in fact the ultimate goal of much biomedical research, and our recognitition of ALL the driving causes of a particular disease - and the ways in which these causes inter-relate with each other and with effected structures to cause a change in normal function is a critical representational task BIRNlex will increasingly take on to provide an evolving, nuanced functional reconstruction of disease as a process and an outcome. These relations will be represented using OWL ObjectProperties. Function is the most sensible context to drive the asserted subsumptive hierarchy for representing nervous system disease, since it is with the clinical description of altered, impaired, decreased, or lost function that the diagnosis - and the research - of disease is rooted. Much has already been described regarding both the effected biomaterial entities and the causes of disease. However, it is because understanding of such relations still is far from comprehensive, that biomedical investigation into nervous system disease continues. Finally, given the "realist" ontology design approach being used to construct BIRNLex, function must be represented as inhering in some biomaterial entity from molecules and their controlling elements on up through gross anatomical structures. Over time, BIRNLex will provide the required relations to depict these functionally-related structures for both the normal and pathological function of the nervous system. This will be true both for the causes and for the outcomes of nervous system disease. Initial work to extend this expressive representation will focus on the neurodegenerative diseases being studied by …
created date: 2007-10-05
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D001523
nif ID: _8.3_11

Adjustment Disorder
type: Class
synonym: Anniversary Reaction
synonym: Reactive Depression
synonym: Reactive Disorder
synonym: Transient Situational Disturbance
definition: Maladaptive reactions to identifiable psychosocial stressors occurring within a short time after onset of the stressor. They are manifested by either impairment in social or occupational functioning or by symptoms (depression, anxiety, etc.) that are in excess of a normal and expected reaction to the stressor (MeSH).
subclass of: Mental Disorder
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D000275

Anxiety Disorder
type: Class
synonym: Anxiety Neurosis
synonym: Neurotic Anxiety State
definition: Persistent and disabling ANXIETY (MeSH).
subclass of: Mental Disorder
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D001008
nif ID: _8.3_11.4

Agoraphobia
type: Class
definition: Obsessive, persistent, intense fear of open places (MeSH).
subclass of: Anxiety Disorder
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D000379

Neurocirculatory Asthenia
type: Class
synonym: Cardiac Neurosis
synonym: Effort Syndrome
synonym: Hyperkinetic Heart Syndrome
definition: A clinical syndrome characterized by palpitation, SHORTNESS OF BREATH, labored breathing, subjective complaints of effort and discomfort, all following slight EXERTION. Other symptoms may be DIZZINESS, tremulousness, SWEATING, and INSOMNIA. Neurocirculatory asthenia is most typically seen as a form of anxiety disorder (MeSH).
subclass of: Anxiety Disorder
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D009449

Obsessive-Compulsive Disorder
type: Class
synonym: Obsessive-Compulsive Neurosis
definition: An anxiety disorder characterized by recurrent, persistent obsessions or compulsions. Obsessions are the intrusive ideas, thoughts, or images that are experienced as senseless or repugnant. Compulsions are repetitive and seemingly purposeful behavior which the individual generally recognizes as senseless and from which the individual does not derive pleasure although it may provide a release from tension (MeSH).
subclass of: Anxiety Disorder
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D009771

Phobic Disorder
type: Class
synonym: Phobia
synonym: Phobic Neurosis
definition: Anxiety disorders in which the essential feature is persistent and irrational fear of a specific object, activity, or situation that the individual feels compelled to avoid. The individual recognizes the fear as excessive or unreasonable (MeSH).
subclass of: Anxiety Disorder
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D010698
putative class extension: Claustrophobia
putative class extension: School Phobia
putative class extension: Social Phobia
usage note: MeSH includes the following qualified subtypes based on the type of object or experience inducing the fear reaction: ; ;

Panic Disorder
type: Class
synonym: Panic Attack
definition: A type of anxiety disorder characterized by unexpected panic attacks that last minutes or, rarely, hours. Panic attacks begin with intense apprehension, fear or terror and, often, a feeling of impending doom. Symptoms experienced during a panic attack include dyspnea or sensations of being smothered; dizziness, loss of balance or faintness; choking sensations; palpitations or accelerated heart rate; shakiness; sweating; nausea or other form of abdominal distress; depersonalization or derealization; paresthesias; hot flashes or chills; chest discomfort or pain; fear of dying and fear of not being in control of oneself or going crazy. Agoraphobia may also develop. Similar to other anxiety disorders, it may be inherited as an autosomal dominant trait (MeSH).
subclass of: Anxiety Disorder
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D016584

Traumatic Stress Disorder
type: Class
synonym: Stress Disorder
definition: Anxiety disorders manifested by the development of characteristic symptoms following a psychologically traumatic event that is outside the normal range of usual human experience. Symptoms include re-experiencing the traumatic event, increased arousal, and numbing of responsiveness to or reduced involvement with the external world. Traumatic stress disorders can be further classified by the time of onset and the duration of these symptoms (MeSH).
subclass of: Anxiety Disorder
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D040921

Combat Disorder
type: Class
synonym: Combat Neurosis
synonym: War Neurosis
definition: Neurotic reactions to unusual, severe, or overwhelming military stress (MeSH).
subclass of: Traumatic Stress Disorder
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D003130

Post-Traumatic Stress Disorder
type: Class
synonym: Post-Traumatic Neurosis
definition: A class of traumatic stress disorders with symptoms that last more than one month. There are various forms of post-traumatic stress disorder, depending on the time of onset and the duration of these stress symptoms. In the acute form, the duration of the symptoms is between 1 to 3 months. In the chronic form, symptoms last more than 3 months. With delayed onset, symptoms develop more than 6 months after the traumatic event (MeSH).
subclass of: Traumatic Stress Disorder
created date: 2007-10-05
modified date: 2007-10-05
acronym: PTSD
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D013313
putative class extension: Acute Post-Traumatic Stress Disorder
putative class extension: Chronic Post-Traumatic Stress Disorder
putative class extension: Delayed Onset Post-Traumatic Stress Disorder
usage note: MeSH includes qualified subtypes based on the time of onset or temporal extent of the stress reaction

Acute Traumatic Stress Disorder
type: Class
synonym: Acute Stress Disorder
definition: A class of traumatic stress disorders that is characterized by the significant dissociative states seen immediately after overwhelming trauma. By definition it cannot last longer than 1 month, if it persists, a diagnosis of post-traumatic stress disorder ( STRESS DISORDERS, POST-TRAUMATIC) is more appropriate (MeSH).
subclass of: Traumatic Stress Disorder
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D040701

Central Nervous System Infection
type: Class
definition: Pathogenic infections of the brain, spinal cord, and meninges. DNA VIRUS INFECTIONS; RNA VIRUS INFECTIONS; BACTERIAL INFECTIONS; MYCOPLASMA INFECTIONS; SPIROCHAETALES INFECTIONS; fungal infections; PROTOZOAN INFECTIONS; HELMINTHIASIS; and PRION DISEASES may involve the central nervous system as a primary or secondary process (MeSH).
subclass of: Nervous system disease
created date: 2007-10-05
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D002494
nif ID: _8.3_6

Central Nervous System Bacterial Infection
type: Class
definition: Bacterial infections of the brain, spinal cord, and meninges, including infections involving the perimeningeal spaces (MeSH).
subclass of: Central Nervous System Infection
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020806
nif ID: _8.3_6.1

Central Nervous System Fungal Infection
type: Class
synonym: Acute Stress Disorder
synonym: Central Nervous System Mycosis
definition: MYCOSES of the brain, spinal cord, and meninges which may result in ENCEPHALITIS; MENINGITIS, FUNGAL; MYELITIS; BRAIN ABSCESS; and EPIDURAL ABSCESS. Certain types of fungi may produce disease in immunologically normal hosts, while others are classified as opportunistic pathogens, causing illness primarily in immunocompromised individuals (e.g., ACQUIRED IMMUNODEFICIENCY SYNDROME) (MeSH).
subclass of: Central Nervous System Infection
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020314

Central Nervous System Parasitic Infection
type: Class
definition: Infections of the brain, spinal cord, and meninges caused by parasites, primarily PROTOZOA and HELMINTHS (MeSH).
subclass of: Central Nervous System Infection
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020807

Central Nervous System Viral Infection
type: Class
synonym: Viral CNS Infection
definition: Viral infections of the brain, spinal cord, meninges, or perimeningeal spaces (MeSH).
subclass of: Central Nervous System Infection
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020805
nif ID: _8.3_6.2

Prion Disease
type: Class
synonym: Prion Protein Disease
synonym: Prion-Induced Disorder
synonym: Transmissible Dementia
synonym: Transmissible Spongiform Encephalopathy
definition: A group of genetic, infectious, or sporadic degenerative human and animal nervous system disorders associated with abnormal PRIONS. These diseases are characterized by conversion of the normal prion protein to an abnormal configuration via a post-translational process. In humans, these conditions generally feature DEMENTIA; ATAXIA; and a fatal outcome. Pathologic features include a spongiform encephalopathy without evidence of inflammation. The older literature occasionally refers to these as unconventional SLOW VIRUS DISEASES (MeSH).
subclass of: Neurodegenerative disease
created date: 2007-10-05
modified date: 2007-10-05
defining citation: Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D017096
nif ID: _8.3_2.8
putative class extension: Inherited Human Transmissible Spongiform Encephalopathy
usage note: MeSH includes qualified subtype limiting to humans

Creutzfeldt-Jakob Syndrome
type: Class
synonym: Creutzfeldt-Jakob Disease
synonym: Jakob Creutzfeldt Disease
synonym: Jakob-Creutzfeldt Disease
synonym: Jakob-Creutzfeldt Syndrome
definition: A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS (MeSH).
subclass of: Prion Disease
created date: 2007-10-05
modified date: April 11, 2009
acronym: CJD
defining citation: N Engl J Med, 1998 Dec 31;339(27)
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D007562
nif ID: _8.3_2.8.1

Familial Creutzfeldt-Jakob Disease
type: Class
definition: A familial form exhibiting autosomal dominant inheritance has been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS (MeSH).
subclass of: Creutzfeldt-Jakob Syndrome
created date: 2007-10-05
modified date: 2007-10-05
defining citation: N Engl J Med, 1998 Dec 31;339(27)
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D007562

Variant-Creutzfeldt-Jakob Disease
type: Class
synonym: CJD Variant
synonym: New Variant Creutzfeldt-Jakob Disease
synonym: Variant Creutzfeldt-Jakob Disease
synonym: Variant-Creutzfeldt-Jakob's Disease
definition: A new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) has been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS (MeSH).
subclass of: Creutzfeldt-Jakob Syndrome
created date: 2007-10-05
modified date: April 11, 2009
acronym: V-CJD
defining citation: N Engl J Med, 1998 Dec 31;339(27)
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D007562

Bovine Spongiform Encephalopathy
type: Class
synonym: Mad Cow Disease
definition: A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ATAXIA. This disorder has been associated with consumption of SCRAPIE infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant CREUTZFELDT-JAKOB SYNDROME (MeSH).
subclass of: Prion Disease
created date: 2007-10-05
modified date: 2007-10-05
acronym: BSE
defining citation: Vet Rec 1998 Jul 25;143(41):101-5
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D016643

Gerstmann-Straussler-Scheinker Disease
type: Class
synonym: Gerstmann-Straussler Inherited Spongiform Encephalopathy
synonym: Gerstmann-Straussler Syndrome
synonym: Gerstmann-Straussler-Scheinker's Disease
definition: An autosomal dominant familial prion disease with a wide spectrum of clinical presentations including ATAXIA, spastic paraparesis, extrapyramidal signs, and DEMENTIA. Clinical onset is in the third to sixth decade of life and the mean duration of illness prior to death is five years. Several kindreds with variable clinical and pathologic features have been described. Pathologic features include cerebral prion protein amyloidosis, and spongiform or neurofibrillary degeneration (MeSH).
subclass of: Prion Disease
created date: 2007-10-05
modified date: April 11, 2009
defining citation: Brain Pathol 1998 Jul;8(3):499-513; Brain Pathol 1995 Jan;5(1):61-75
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D016098

Fatal Familial Insomnia
type: Class
definition: An autosomal dominant disorder characterized by degeneration of the THALAMUS and progressive insomnia. It is caused by a mutation in the prion protein ( PRIONS) (MeSH).
subclass of: Prion Disease
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D034062

Kuru
type: Class
synonym: Kuru Encephalopathy
definition: A prion disease found exclusively among the Fore linguistic group natives of the highlands of NEW GUINEA. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques (MeSH).
subclass of: Prion Disease
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D007729

Scrapie
type: Class
synonym: Rida
definition: A prion disease found exclusively among the Fore linguistic group natives of the highlands of NEW GUINEA. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques (MeSH).
subclass of: Prion Disease
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D012608

Chronic Wasting Disease
type: Class
definition: A transmissible spongiform encephalopathy (prion disease) of DEER and elk characterized by chronic weight loss leading to death. It is thought to spread by direct contact between animals or through environmental contamination with the prion protein ( PRIONS) (MeSH).
subclass of: Prion Disease
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D034081

Tauopathy
type: Class
definition: Neurodegenerative disorders involving deposition of abnormal tau protein isoforms ( TAU PROTEINS) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with ALZHEIMER DISEASE; DEMENTIA; PARKINSONIAN DISORDERS; progressive supranuclear palsy ( SUPRANUCLEAR PALSY, PROGRESSIVE); and corticobasal degeneration (MeSH).
subclass of: Neurodegenerative disease
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D024801

Progressive Supranuclear Palsy
type: Class
synonym: Progressive Supranuclear Ophthalmoplegia
synonym: Steele-Richardson-Olszewski Disease
synonym: Steele-Richardson-Olszewski Syndrome
definition: A degenerative disease of the central nervous system characterized by balance difficulties; OCULAR MOTILITY DISORDERS (supranuclear ophthalmoplegia); DYSARTHRIA; swallowing difficulties; and axial DYSTONIA. Onset is usually in the fifth decade and disease progression occurs over several years. Pathologic findings include neurofibrillary degeneration and neuronal loss in the dorsal MESENCEPHALON; SUBTHALAMIC NUCLEUS; RED NUCLEUS; pallidum; dentate nucleus; and vestibular nuclei (MeSH).
subclass of: Tauopathy
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D013494
nif ID: _8.3_2.12

Substance-Related Disorder
type: Class
synonym: Addiction
synonym: Drug Abuse
synonym: Drug Usage
synonym: drug use
synonym: Drug Use Disorder
synonym: Substance Abuse
synonym: Substance Disorder
synonym: Substance use
synonym: Substance Use Disorder
synonym: Substance-Induced Organic Mental Disorder
definition: Disorder related to substance abuse, the side effects of a medication, toxin exposure, and ALCOHOL-RELATED DISORDERS (MeSH).
subclass of: Mental Disorder
created date: 2007-10-08
modified date: March 18, 2009
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D019966
nif ID: _8.3_11.1
putative class extension: Drug Addiction
putative class extension: Drug Dependence
putative class extension: Drug Habituation
putative class extension: Glue Sniffing
putative class extension: Substance Addiction
putative class extension: Substance Dependence
usage note: MeSH includes the following entry terms that are either implied sub-types or components of the overall spectrum of functional manifestations of Substance-Related Disorder

Alcohol-Related Disorder
type: Class
definition: Disorder related to or resulting from abuse or mis-use of alcohol (MeSH).
subclass of: Substance-Related Disorder
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D019973
nif ID: _8.3_11.1.1

Alcohol Amnestic Disorder
type: Class
synonym: Alcohol Amnestic Syndrome
synonym: Alcohol-Induced Amnestic Psychosis
synonym: Alcohol-Induced Amnestic Syndrome
synonym: Alcohol-Induced Dysmnesic Psychosis
synonym: Alcohol-Induced Dysmnesic Syndrome
definition: A mental disorder associated with chronic ethanol abuse ( ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention (MeSH).
subclass of: Alcohol-Related Disorder
created date: 2007-10-08
modified date: 2007-10-08
defining citation: Adams et al., Principles of Neurology, 6th ed, p1139
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D000425

Korsakoff Syndrome
type: Class
synonym: Korsakoff Psychosis
synonym: Wernicke-Korsakoff Syndrome
definition: An acquired cognitive disorder characterized by inattentiveness and the inability to form short term memories. This disorder is frequently associated with chronic ALCOHOLISM; but it may also result from dietary deficiencies; CRANIOCEREBRAL TRAUMA; NEOPLASMS; CEREBROVASCULAR DISORDERS; ENCEPHALITIS; EPILEPSY; and other conditions (MeSH).
subclass of: Alcohol Amnestic Disorder
created date: 2007-10-08
modified date: 2007-10-08
defining citation: Adams et al., Principles of Neurology, 6th ed, p1139
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D019973

Alcohol Withdrawal Delirium
type: Class
synonym: Alcohol Withdrawal Associated Autonomic Hyperactivity
synonym: Alcohol Withdrawal Hallucinosis
synonym: Alcohol Withdrawal-Induced Delirium Tremens
synonym: Delirium Tremens
definition: An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include CONFUSION; DELUSIONS; vivid HALLUCINATIONS; TREMOR; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens (MeSH).
subclass of: Alcohol-Related Disorder
created date: 2007-10-08
modified date: 2007-10-08
defining citation: Adams et al., Principles of Neurology, 6th ed, p1175
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D000430

Alcoholic Intoxication
type: Class
synonym: Drunkenness
definition: An acute brain syndrome which results from the excessive ingestion of ETHANOL or ALCOHOLIC BEVERAGES (MeSH).
subclass of: Alcohol-Related Disorder
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D000435

Alcoholism
type: Class
synonym: Alcohol Abuse
synonym: Chronic Alcoholic Intoxication
definition: A primary, chronic disease with genetic, psychosocial, and environmental factors influencing its development and manifestations. The disease is often progressive and fatal. It is characterized by impaired control over drinking, preoccupation with the drug alcohol, use of alcohol despite adverse consequences, and distortions in thinking, most notably denial. Each of these symptoms may be continuous or periodic (MeSH).
subclass of: Alcohol-Related Disorder
created date: 2007-10-08
modified date: 2007-10-08
defining citation: Morse and Flavin for the Joint Commission of the National Council on Alcoholism and Drug Dependence and the American Society of Addiction Medicine to Study the Definition and Criteria for the Diagnosis of Alcoholism: in JAMA 1992;268:1012-4
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D000437

Metabolic Nervous System Disease
type: Class
synonym: Central Nervous System Metabolic Disorder
synonym: CNS Metabolic Disorder
synonym: Metabolic Brain Disease
synonym: Metabolic Brain Disorder
synonym: Metabolic Brain Syndrome
synonym: Metabolic Encephalopathy
synonym: Metabolic Nervous System Disorder
synonym: Metabolic Nervous System Syndrome
definition: Brain dysfunction or damage caused by acquired (i.e., non-inborn) metabolic disorders. Associated conditions include ENDOCRINE DISEASES; WATER-ELECTROLYTE IMBALANCE; KIDNEY DISEASES; LIVER DISEASES; anoxia ( HYPOXIA, BRAIN); nutritional disorders (see NUTRITIONAL AND METABOLIC DISEASES); an encephalopathy associated with HEMODIALYSIS; and other disorders (MeSH).
subclass of: Nervous system disease
editorial note: Note BIRNLex seeks to evolve a core subsumptive disease hierarchy based first on the effected function, then the effected structure, the latter for those categories of nervous system disease that have typically been associated with structural abnormalities or trauma (e.g., Motor neuron diseases, cerebrovascular trauma, etc.). Disease causation is in fact the ultimate goal of much biomedical research, and our recognitition of ALL the driving causes of a particular disease - and the ways in which these causes inter-relate with each other and with effected structures to cause a change in normal function is a critical representational task BIRNlex will increasingly take on to provide an evolving, nuanced functional reconstruction of disease as a process and an outcome. These relations will be represented using OWL ObjectProperties. Function is the most sensible context to drive the asserted subsumptive hierarchy for representing nervous system disease, since it is with the clinical description of altered, impaired, decreased, or lost function that the diagnosis - and the research - of disease is rooted. Much has already been described regarding both the effected biomaterial entities and the causes of disease. However, it is because understanding of such relations still is far from comprehensive, that biomedical investigation into nervous system disease continues. Finally, given the "realist" ontology design approach being used to construct BIRNLex, function must be represented as inhering in some biomaterial entity from molecules and their controlling elements on up through gross anatomical structures. Over time, BIRNLex will provide the required relations to depict these functionally-related structures for both the normal and pathological function of the nervous system. This will be true both for the causes and for the outcomes of nervous system disease. Initial work to extend this expressive representation will focus on the neurodegenerative diseases being studied by …
created date: 2007-10-08
modified date: 2007-11-18
defining citation: Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, pp208-260
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D001928
nif ID: _8.3_7
usage note: Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function (MeSH).
usage note: MeSH includes all the listed synonyms with ACQUIRED pre-pended, indicating a non-hereditary subtype.

Inborn Metabolic Brain Disease
type: Class
synonym: Familial Metabolic Brain Disease
synonym: Familial Metabolic Brain Disorder
synonym: Inborn Errors of Metabolism, Brain
synonym: Inborn Metabolic Brain Disorder
synonym: Inborn Metabolic Central Nervous System Disease
synonym: Inborn Metabolic Central Nervous System Disorder
synonym: Inborn Metabolic CNS Disease
synonym: Inborn Metabolic CNS Disorder
synonym: Inborn Metabolic Encephalopathy
synonym: Inherited Metabolic Brain Disease
synonym: Inherited Metabolic Brain Disorder
definition: Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero (MeSH).
subclass of: Metabolic Nervous System Disease
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020739

Alcoholic Psychosis
type: Class
definition: A group of mental disorders associated with organic brain damage and caused by poisoning from alcohol (MeSH).
subclass of: Alcohol-Related Disorder
editorial note: This class will utlimately be moved to a position reflecting the effected function, as opposed to one reflecting causation (BB: 2007-10-08)
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: graph position temporary
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D011604

Wernicke Encephalopathy
type: Class
synonym: Cerebral Beriberi
synonym: Gayet-Wernicke Encephalopathy
synonym: Wernicke Disease
synonym: Wernicke Syndrome
definition: An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. THIAMINE DEFICIENCY and chronic ALCOHOLISM are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to KORSAKOFF SYNDROME (MeSH).
subclass of: Alcohol-Related Disorder
editorial note: This class will utlimately be moved to a position reflecting the effected function, as opposed to one reflecting causation (BB: 2007-10-08)
created date: 2007-10-08
modified date: 2007-10-08
defining citation: Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3
has birnlex curator: Bill Bug
has curation status: graph position temporary
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D011604

Amphetamine-Related Disorder
type: Class
synonym: Amphetamine Abuse
synonym: Amphetamine Usage
definition: Disorders related or resulting from use of amphetamines (MeSH).
subclass of: Substance-Related Disorder
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D019969
putative class extension: Amphetamine Addiction
putative class extension: Amphetamine Dependence
usage note: MeSH includes implied components of the overall spectrum of functional manifestations of Amphetamine-Related Disorder

Cocaine-Related Disorder
type: Class
synonym: Cocaine Abuse
synonym: Cocaine Usage
definition: Disorders related or resulting from use of amphetamines (MeSH).
subclass of: Substance-Related Disorder
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D019970
nif ID: _8.3_11.1.3
putative class extension: Cocaine Addiction
putative class extension: Cocaine Dependence
usage note: MeSH includes implied components of the overall spectrum of functional manifestations of Cocaine-Related Disorder

Cannabis-Related Disorder
type: Class
synonym: Cannabinoid Abuse
synonym: Cannabis Abuse
synonym: Hashish Abuse
synonym: Marijuana Abuse
definition: The excessive use of marijuana with associated psychological symptoms and impairment in social or occupational functioning (MeSH).
subclass of: Substance-Related Disorder
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D002189
nif ID: _8.3_11.1.2
putative class extension: Cannabis Dependence
putative class extension: Marijuana Dependence
usage note: MeSH includes implied components of the overall spectrum of functional manifestations of Cannabis-Related Disorder

Neonatal Abstinence Syndrome
type: Class
definition: Fetal and neonatal addiction and withdrawal as a result of the mother's dependence on drugs during pregnancy. Withdrawal or abstinence symptoms develop shortly after birth. Symptoms exhibited are loud, high-pitched crying, sweating, yawning and gastrointestinal disturbances (MeSH).
subclass of: Substance-Related Disorder
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D009357
putative class extension: Neonatal Passive Addiction
putative class extension: Neonatal Substance Withdrawal
putative class extension: Neonatal Withdrawal Syndrome
usage note: MeSH includes implied components of the overall spectrum of functional manifestations of Neonatal Abstinence Syndrome

Opioid-Related Disorder
type: Class
synonym: Narcotic Abuse
definition: Disorders related or resulting from abuse or mis-use of opioids (MeSH).
subclass of: Substance-Related Disorder
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D009293
nif ID: _8.3_11.1.5
putative class extension: Narcotic Addiction
putative class extension: Narcotic Dependence
putative class extension: Opiate Addiction
putative class extension: Opiate Dependence
usage note: MeSH includes implied components of the overall spectrum of functional manifestations of Opioid-Related Disorder

Heroin-Related Disorder
type: Class
synonym: Heroin Abuse
synonym: Heroin Usage
definition: Disorders related or resulting from abuse or mis-use of heroin.
subclass of: Opioid-Related Disorder
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D006556
putative class extension: Heroin Addiction
putative class extension: Heroin Dependence
usage note: MeSH includes implied components of the overall spectrum of functional manifestations of Opioid-Related Disorder

Morphine-Related Disorder
type: Class
synonym: Morphine Abuse
synonym: Morphine Usage
definition: Disorders related or resulting from abuse or mis-use of morphine.
subclass of: Opioid-Related Disorder
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D009021
putative class extension: Morphine Addiction
putative class extension: Morphine Dependence
usage note: MeSH includes implied components of the overall spectrum of functional manifestations of Morphine-Related Disorder

Nicotine Use Disorder
type: Class
synonym: Tobacco Use Disorder
definition: Tobacco used to the detriment of a person's health or social functioning. Tobacco dependence is included (MeSH).
subclass of: Substance-Related Disorder
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D014029
nif ID: _8.3_11.1.4
putative class extension: Nicotine Addiction
putative class extension: Nicotine Dependence
usage note: MeSH includes implied components of the overall spectrum of functional manifestations of Nicotine Use Disorder
scope note: includes cigarettes, cigars, chewing tobacco & snuff; a psychiatric diag: do not confuse with SMOKING / adv eff; note X ref NICOTINE DEPENDENCE: do not coord with NICOTINE unless nicotine is substantially discussed as a chemical

Phencyclidine-Related Disorder
type: Class
synonym: Angel Dust Abuse
synonym: PCP Abuse
definition: The misuse of phencyclidine with associated psychological symptoms and impairment in social or occupational functioning (MeSH).
subclass of: Substance-Related Disorder
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D010623

Epilepsy
type: Class
synonym: Epileptic Seizure
synonym: Seizure Disorder
definition: A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy) (MeSH).
subclass of: Nervous system disease
editorial note: Note BIRNLex seeks to evolve a core subsumptive disease hierarchy based first on the effected function, then the effected structure, the latter for those categories of nervous system disease that have typically been associated with structural abnormalities or trauma (e.g., Motor neuron diseases, cerebrovascular trauma, etc.). Disease causation is in fact the ultimate goal of much biomedical research, and our recognitition of ALL the driving causes of a particular disease - and the ways in which these causes inter-relate with each other and with effected structures to cause a change in normal function is a critical representational task BIRNlex will increasingly take on to provide an evolving, nuanced functional reconstruction of disease as a process and an outcome. These relations will be represented using OWL ObjectProperties. Function is the most sensible context to drive the asserted subsumptive hierarchy for representing nervous system disease, since it is with the clinical description of altered, impaired, decreased, or lost function that the diagnosis - and the research - of disease is rooted. Much has already been described regarding both the effected biomaterial entities and the causes of disease. However, it is because understanding of such relations still is far from comprehensive, that biomedical investigation into nervous system disease continues. Finally, given the "realist" ontology design approach being used to construct BIRNLex, function must be represented as inhering in some biomaterial entity from molecules and their controlling elements on up through gross anatomical structures. Over time, BIRNLex will provide the required relations to depict these functionally-related structures for both the normal and pathological function of the nervous system. This will be true both for the causes and for the outcomes of nervous system disease. Initial work to extend this expressive representation will focus on the neurodegenerative diseases being studied by …
created date: 2007-10-08
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D004827
nif ID: _8.3_5

Myoclonic Epilepsy
type: Class
synonym: Myoclonic Encephalopathy
synonym: Myoclonic Seizure Disorder
synonym: Symptomatic Myoclonic Epilepsy
definition: A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.) (MeSH).
subclass of: Epilepsy
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020190
nif ID: _8.3_5.2.3
putative class extension: Cryptogenic Myoclonic Epilepsy
putative class extension: Idiopathic Myoclonic Epilepsy
putative class extension: Myoclonic Absence Epilepsy
putative class extension: Myoclonic Astatic Epilepsy
usage note: MeSH includes implied subtypes

Infantile Myoclonic Epilepsy
type: Class
synonym: Early Childhood Myoclonic Epilepsy
subclass of: Myoclonic Epilepsy
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D004831
putative class extension: Benign Infantile Myoclonic Epilepsy
putative class extension: Severe Infantile Myoclonic Epilepsy
usage note: MeSH includes implied subtypes based on disease severity

Juvenile Myoclonic Epilepsy
type: Class
synonym: Adolescent Myoclonic Epilepsy
synonym: Impulsive Petit Mal Epilepsy
synonym: Janz Impulsive Petit Mal
synonym: Janz Juvenile Myoclonic Epilepsy
synonym: Janz Syndrome
synonym: Juvenile Myoclonic Epilepsy of Janz
definition: A disorder characterized by the onset of myoclonus in adolescence, a marked increase in the incidence of absence seizures (see EPILEPSY, ABSENCE), and generalized major motor seizures (see EPILEPSY, TONIC-CLONIC). The myoclonic episodes tend to occur shortly after awakening. Seizures tend to be aggravated by sleep deprivation and alcohol consumption. Hereditary and sporadic forms have been identified (MeSH).
subclass of: Myoclonic Epilepsy
created date: 2007-10-08
modified date: 2007-10-08
acronym: JME
defining citation: Adams et al., Principles of Neurology, 6th ed, p323
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020190

Progressive Myoclonic Epilepsy
type: Class
definition: A heterogeneous group of primarily familial disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME (MeSH).
subclass of: Myoclonic Epilepsy
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020191
putative class extension: Action Myoclonus-Renal Failure Syndrome
putative class extension: Atypical Inclusion-Body Disease
putative class extension: Biotin-Responsive Encephalopathy
putative class extension: Dentatorubral-Pallidoluysian Atrophy
putative class extension: Familial Progressive Myoclonic Epilepsy
putative class extension: May-White Syndrome
usage note: MeSH includes implied subtypes

Lafora Progressive Myoclonic Epilepsy
type: Class
synonym: Lafora Body Disease
synonym: Lafora Disease
synonym: Lafora Type Progressive Myoclonic Epilepsy
synonym: Late Onset Lafora Body Disease
definition: A form of stimulus sensitive myoclonic epilepsy inherited as an autosomal recessive condition. The most common presenting feature is a single seizure in the second decade of life. This is followed by progressive myoclonus, myoclonic seizures, tonic-clonic seizures, focal occipital seizures, intellectual decline, and severe motor and coordination impairments. Most affected individuals do not live past the age of 25 years. Concentric amyloid (Lafora) bodies are found in neurons, liver, skin, bone, and muscle (MeSH).
subclass of: Progressive Myoclonic Epilepsy
created date: 2007-10-08
modified date: 2007-10-08
defining citation: Menkes, Textbook of Childhood Neurology, 5th ed, pp111-110
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020192
usage note: MeSH includes the following implied subtypes: Action Myoclonus-Renal Failure Syndrome; Atypical Inclusion-Body Disease; Biotin-Responsive Encephalopathy; Dentatorubral-Pallidoluysian Atrophy; Familial Progressive Myoclonic Epilepsy; May-White Syndrome

MERRF Syndrome
type: Class
synonym: Fukuhara Disease
synonym: Fukuhara Syndrome
synonym: Myoclonic Epilepsy and Ragged Red Fibers
synonym: Myoclonic Epilepsy with Ragged Red Fibers
definition: A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects (MeSH).
subclass of: Progressive Myoclonic Epilepsy
created date: 2007-10-08
modified date: 2007-10-08
defining citation: Adams et al., Principles of Neurology, 6th ed, p986
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D017243

Unverricht-Lundborg Syndrome
type: Class
synonym: Baltic Myoclonus
synonym: Baltic Myoclonus Epilepsy
synonym: Lundborg-Unverricht Syndrome
synonym: Mediterranean Myoclonic Epilepsy
synonym: Unverricht Disease
definition: An autosomal recessive condition characterized by recurrent myoclonic and generalized seizures, ATAXIA, slowly progressive intellectual deterioration, dysarthria, and intention tremor. Myoclonic seizures are severe and continuous, and tend to be triggered by movement, stress, and sensory stimuli. The age of onset is between 8 and 13 years, and the condition is relatively frequent in the Baltic region, especially Finland (MeSH).
subclass of: Progressive Myoclonic Epilepsy
created date: 2007-10-08
modified date: 2007-10-08
defining citation: Menkes, Textbook of Child Neurology, 5th ed, pp109-110
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020194

Partial Epilepsy
type: Class
synonym: Focal Epilepsy
synonym: Focal Seizure Disorder
synonym: Localization-Related Epilepsy
synonym: Partial Seizure Disorder
synonym: Simple Partial Epilepsy
synonym: Simple Partial Seizure
synonym: Simple Partial Seizure, Consciousness Preserved
definition: Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely (MeSH).
subclass of: Epilepsy
created date: 2007-10-08
modified date: 2007-10-08
defining citation: Adams et al., Principles of Neurology, 6th ed, pp317
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D004828
nif ID: _8.3_5.1
putative class extension: Abdominal Epilepsy
putative class extension: Amygdalo-Hippocampal Epilepsy
putative class extension: Childhood Benign Focal Epilepsy
putative class extension: Childhood Benign Occipital Epilepsy
putative class extension: Digestive Epilepsy; Gelastic Epilepsy
putative class extension: Occipital Lobe Epilepsy
putative class extension: Rhinencephalic Epilepsy
putative class extension: Subclinical Seizures
putative class extension: Uncinate Seizures
usage note: MeSH includes implied subtypes

Simple Partial Epilepsy
type: Class
synonym: Simple Partial Seizure
synonym: Simple Partial Seizure, Consciousness Preserved
subclass of: Partial Epilepsy
created date: 2007-10-08
modified date: 2007-10-08
defining citation: Adams et al., Principles of Neurology, 6th ed, pp317
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D004828
nif ID: _8.3_5.1.1

Complex Partial Epilepsy
type: Class
synonym: Complex Partial Seizure Disorder
definition: A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and AUTOMATISM may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy) (MeSH).
subclass of: Partial Epilepsy
created date: 2007-10-08
modified date: 2007-10-08
defining citation: Adams et al., Principles of Neurology, 6th ed, pp317-8
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D017029
nif ID: _8.3_5.1.2
putative class extension: Cryptogenic Partial Complex Epilepsy
putative class extension: Psychic Equivalent Epilepsy
putative class extension: Psychomotor Epilepsy
putative class extension: Symptomatic Partial Complex Epilepsy
usage note: MeSH includes implied subtypes

Frontal Lobe Epilepsy
type: Class
synonym: Complex Partial Seizure Disorder
definition: A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Simple or complex motor movements may occur, and most commonly involve the face and upper extremities. Seizures in the anterior frontal regions may be associated with head and eye turning, typically away from the side of origin of the seizure. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures) (MeSH).
subclass of: Partial Epilepsy
created date: 2007-10-08
modified date: 2007-10-08
defining citation: Adams et al., Principles of Neurology, 6th ed, pp318-9
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D017034
putative class extension: Anterior Fronto-Polar Epilepsy
putative class extension: Benign Frontal Childhood Epilepsy
putative class extension: Cingulate Epilepsy
putative class extension: Opercular Epilepsy
putative class extension: Orbito-Frontal Epilepsy
putative class extension: Supplementary Motor Epilepsy
usage note: MeSH includes implied subtypes

Motor Partial Epilepsy
type: Class
synonym: Focal Motor Epilepsy
synonym: Hemimotor Epilepsy
synonym: Hemimotor Seizure Disorder
synonym: Motor Partial Seizure Disorder
synonym: Motor Seizure Disorder
synonym: Versive Seizures
definition: A disorder characterized by recurrent localized paroxysmal discharges of cerebral neurons that give rise to seizures that have motor manifestations. The majority of partial motor seizures originate in the FRONTAL LOBE (see also EPILEPSY, FRONTAL LOBE). Motor seizures may manifest as tonic or clonic movements involving the face, one limb or one side of the body. A variety of more complex patterns of movement, including abnormal posturing of extremities, may also occur (MeSH).
subclass of: Partial Epilepsy
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020938
putative class extension: Focal Clonic Seizure
putative class extension: Focal Tonic Seizure
usage note: MeSH includes implied subtypes

Sensory Partial Epilepsy
type: Class
synonym: Focal Sensory Seizure
synonym: Partial Sensory Seizure
synonym: Sensory Epilepsy
synonym: Sensory Focal Seizure Disorder
synonym: Sensory Partial Seizure Disorder
synonym: Sensory Seizure Disorder
synonym: Simple Partial Seizure, Special Sensory Symptoms
definition: A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures ( EPILEPSY, COMPLEX PARTIAL) (MeSH).
subclass of: Partial Epilepsy
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020937
putative class extension: Gustatory Partial Seizure
putative class extension: Olfactory Partial Seizure
putative class extension: Vertiginous Partial Seizure
putative class extension: Visual Partial Seizure
usage note: MeSH includes implied subtypes based on effected sensory modality

Rolandic Epilepsy
type: Class
synonym: Benign Childhood Epilepsy With Centro-Temporal Spikes
synonym: Benign Rolandic Epilepsy
synonym: Benign Rolandic Epilepsy of Childhood
synonym: Centralopathic Epilepsy
synonym: Centrotemporal Epilepsy
synonym: Rolands Epilepsy
synonym: Sylvian Epilepsy
definition: An autosomal dominant inherited partial epilepsy syndrome with onset between age 3 and 13 years. Seizures are characterized by PARESTHESIA and tonic or clonic activity of the lower face associated with drooling and dysarthria. The episodes tend to occur at night and may become secondarily generalized. In most cases, affected children are neurologically and developmentally normal. The electroencephalogram shows characteristic high-voltage sharp waves over the central temporal regions, which are more prominent during drowsiness and sleep. In general, seizures do not continue beyond mid-adolescence (MeSH).
subclass of: Partial Epilepsy
created date: 2007-10-08
modified date: 2007-10-08
defining citation: Epilepsia 1998 39;Suppl 4:S32-S41
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D019305

Temporal Lobe Epilepsy
type: Class
synonym: Childhood Benign Psychomotor Epilepsy
synonym: Lateral Temporal Epilepsy
synonym: Uncinate Epilepsy
definition: A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion) (MeSH).
subclass of: Partial Epilepsy
created date: 2007-10-08
modified date: 2007-10-08
defining citation: Adams et al., Principles of Neurology, 6th ed, p321
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D004833

Benign Neonatal Epilepsy
type: Class
synonym: Benign Neonatal Convulsions
definition: A condition marked by recurrent seizures that occur during the first 4-6 weeks of life despite an otherwise benign neonatal course. Autosomal dominant familial and sporadic forms have been identified. Seizures generally consist of brief episodes of tonic posturing and other movements, apnea, eye deviations, and blood pressure fluctuations. These tend to remit after the 6th week of life. The risk of developing epilepsy at an older age is moderately increased in the familial form of this disorder (MeSH).
subclass of: Epilepsy
created date: 2007-10-08
modified date: 2007-10-08
defining citation: Adams et al., Principles of Neurology, 6th ed, pp317
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020936
putative class extension: Benign Familial Neonatal Epilepsy
putative class extension: Benign Non-Familial Neonatal Convulsions
putative class extension: Familial Benign Neonatal Convulsions
putative class extension: Non-Familial Benign Neonatal Convulsions
usage note: MeSH includes implied subtypes based on genetic factors.

Familial Benign Neonatal Epilepsy
type: Class
synonym: Familial Benign Neonatal Convulsions
subclass of: Benign Neonatal Epilepsy
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020936

Non-Familial Benign Neonatal Epilepsy
type: Class
synonym: Non-Familial Benign Neonatal Convulsions
subclass of: Benign Neonatal Epilepsy
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020936

Generalized Epilepsy
type: Class
synonym: Generalized Onset Seizure Disorder
synonym: Generalized Seizure Disorder
synonym: Symptomatic Generalized Epilepsy
definition: Recurrent conditions characterized by epileptic seizures which arise diffusely and simultaneously from both hemispheres of the brain. Classification is generally based upon motor manifestations of the seizure (e.g., convulsive, nonconvulsive, akinetic, atonic, etc.) or etiology (e.g., idiopathic, cryptogenic, and symptomatic) (MeSH).
subclass of: Epilepsy
created date: 2007-10-08
modified date: 2007-10-08
defining citation: Mayo Clin Proc, 1996 Apr;71(4):405-14
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D004829
nif ID: _8.3_5.2
usage note: "generalized" as opposed to "focal" or partial ( = EPILEPSIES, PARTIAL); prefer specific indentions; note X ref EPILEPSY, TONIC: do not confuse with EPILEPSY, TONIC-CLONIC
usage note: MeSH includes implied subtypes

Generalized Convulsive Epilepsy
type: Class
synonym: Convulsive Generalized Seizure Disorder
subclass of: Generalized Epilepsy
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D004829

Generalized Nonconvulsive Epilepsy
type: Class
synonym: Nonconvulsive Generalized Seizure Disorder
subclass of: Generalized Epilepsy
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D004829

Atonic Epilepsy
type: Class
synonym: Akinetic Epilepsy
subclass of: Generalized Nonconvulsive Epilepsy
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D004829
nif ID: _8.3_5.2.4

Tonic Epilepsy
type: Class
subclass of: Generalized Nonconvulsive Epilepsy
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D004829

Absence Epilepsy
type: Class
synonym: Absence Seizure
synonym: Absence Seizure Disorder
synonym: Akinetic Petit Mal
synonym: Atonic Absence Seizure
synonym: Childhood Absence Epilepsy
synonym: Juvenile Absence Epilepsy
synonym: Minor Epilepsy
synonym: Petit Mal Convulsion
synonym: Petit Mal Epilepsy
synonym: Pykno-Epilepsy
synonym: Pyknolepsy
definition: A childhood seizure disorder characterized by rhythmic electrical brain discharges of generalized onset. Clinical features include a sudden cessation of ongoing activity usually without loss of postural tone. Rhythmic blinking of the eyelids or lip smacking frequently accompanies the SEIZURES. The usual duration is 5-10 seconds, and multiple episodes may occur daily. Juvenile absence epilepsy is characterized by the juvenile onset of absence seizures and an increased incidence of myoclonus and tonic-clonic seizures (MeSH).
subclass of: Generalized Epilepsy
created date: 2007-10-08
modified date: 2007-10-08
defining citation: Menkes, Textbook of Child Neurology, 5th ed, p736
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D004832
nif ID: _8.3_5.2.2
putative class extension: Atypical Absence Epilepsy
usage note: MeSH includes implied subtypes

Tonic-Clonic Epilepsy
type: Class
synonym: Grand Mal Convulsions
synonym: Grand Mal Convulsions Epilepsy
synonym: Grand Mal Seizure Disorder
synonym: Grand Mal Seizures Disorder
synonym: Major Epilepsy
synonym: Major Motor Seizure Disorder
synonym: Tonic-Clonic Convulsion Disorder
synonym: Tonic-Clonic Convulsion Syndrome
synonym: Tonic-Clonic Convulsions
synonym: Tonic-Clonic Seizure Disorder
synonym: Tonic-Clonic Seizure Syndrome
definition: A generalized seizure disorder characterized by recurrent major motor seizures. The initial brief tonic phase is marked by trunk flexion followed by diffuse extension of the trunk and extremities. The clonic phase features rhythmic flexor contractions of the trunk and limbs, pupillary dilation, elevations of blood pressure and pulse, urinary incontinence, and tongue biting. This is followed by a profound state of depressed consciousness (post-ictal state) which gradually improves over minutes to hours. The disorder may be cryptogenic, familial, or symptomatic (caused by an identified disease process) (MeSH).
subclass of: Generalized Epilepsy
created date: 2007-10-08
modified date: 2007-10-08
defining citation: Adams et al., Principles of Neurology, 6th ed, p329
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D004830
nif ID: _8.3_5.2.1
putative class extension: Cryptogenic Tonic-Clonic Epilepsy
putative class extension: Symptomatic Tonic-Clonic Epilepsy
usage note: MeSH includes implied subtypes

Infantile Spasms
type: Class
synonym: Hypsarrhythmia
synonym: Jackknife Seizures
synonym: Lightning Attacks
synonym: Nodding Spasm
synonym: Salaam Attacks
synonym: Salaam Seizures
synonym: Spasmus Nutans
synonym: West Syndrome
definition: An epileptic syndrome characterized by the triad of infantile spasms, hypsarrhythmia, and arrest of psychomotor development at seizure onset. The majority present between 3-12 months of age, with spasms consisting of combinations of brief flexor or extensor movements of the head, trunk, and limbs. The condition is divided into two forms: cryptogenic (idiopathic) and symptomatic (secondary to a known disease process such as intrauterine infections; nervous system abnormalities; BRAIN DISEASES, METABOLIC, INBORN; prematurity; perinatal asphyxia; TUBEROUS SCLEROSIS; etc.) (MeSH).
subclass of: Generalized Epilepsy
created date: 2007-10-08
modified date: 2007-10-08
defining citation: Menkes, Textbook of Child Neurology, 5th ed, pp744-8
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D013036
putative class extension: Cryptogenic Infantile Spasms
putative class extension: Cryptogenic West Syndrome
putative class extension: Symptomatic Infantile Spasms
putative class extension: Symptomatic West Syndrome
usage note: MeSH includes implied subtypes

Post-Traumatic Epilepsy
type: Class
synonym: Concussive Convulsion
synonym: Impact Seizure
synonym: Post-Traumatic Seizure Disorder
synonym: Traumatic Epilepsy
definition: Recurrent seizures causally related to CRANIOCEREBRAL TRAUMA. Seizure onset may be immediate but is typically delayed for several days after the injury and may not occur for up to two years. The majority of seizures have a focal onset that correlates clinically with the site of brain injury. Cerebral cortex injuries caused by a penetrating foreign object ( CRANIOCEREBRAL TRAUMA, PENETRATING) are more likely than closed head injuries ( HEAD INJURIES, CLOSED) to be associated with epilepsy. Concussive convulsions are nonepileptic phenomena that occur immediately after head injury and are characterized by tonic and clonic movements (MeSH).
subclass of: Epilepsy
created date: 2007-10-08
modified date: 2007-10-08
defining citation: Rev Neurol 1998 Feb;26(150):256-261; Sports Med 1998 Feb;25(2):131-6
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D004834
putative class extension: Early Post-Traumatic Seizures
putative class extension: Late Post-Traumatic Seizures
usage note: MeSH includes implied subtypes

Reflex Epilepsy
type: Class
definition: A subtype of epilepsy characterized by seizures that are consistently provoked by a certain specific stimulus. Auditory, visual, and somatosensory stimuli as well as the acts of writing, reading, eating, and decision making are examples of events or activities that may induce seizure activity in affected individuals (MeSH).
subclass of: Epilepsy
created date: 2007-10-08
modified date: 2007-10-08
defining citation: Neurol Clin 1994 Feb;12(1):57-8
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020195
putative class extension: Audiogenic Epilepsy
putative class extension: Cursive Epilepsy
putative class extension: Decision Making Reflex Epilepsy
putative class extension: Eating-Induced Epilepsy
putative class extension: Immersion Related Epilepsy
putative class extension: Musicogenic Epilepsy
putative class extension: Photosensitive Epilepsy
putative class extension: Reading Epilepsy
putative class extension: Tactile Reflex Epilepsy
putative class extension: Visual Pattern Reflex Epilepsy
putative class extension: Writing-Induced Reflex Epilepsy
usage note: MeSH includes implied subtypes based on the inducing stimulus

Landau-Kleffner Syndrome
type: Class
synonym: Acquired Childhoood Aphasia with Convulsive Disorder
synonym: Acquired Epileptic Aphasia
synonym: Landau-Kleffner Acquired Epileptiform Aphasia
definition: A syndrome characterized by the onset of isolated language dysfunction in otherwise normal children (age of onset 4-7 years) and epileptiform discharges on ELECTROENCEPHALOGRAPHY. Seizures, including atypical absence ( EPILEPSY, ABSENCE), complex partial ( EPILEPSY, COMPLEX PARTIAL), and other types may occur. The electroencephalographic abnormalities and seizures tend to resolve by puberty. The language disorder may also resolve although some individuals are left with severe language dysfunction, including APHASIA and auditory AGNOSIA (MeSH).
subclass of: Epilepsy
created date: 2007-10-08
modified date: 2007-10-08
defining citation: Menkes, Textbook of Child Neurology, 5th ed, pp749-50; J Child Neurol 1997 Nov;12(8):489-495
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D018887

Seizures
type: Class
synonym: Convulsions
synonym: Convulsive Seizures
synonym: Non-Epileptic Convulsion
definition: Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder." (MeSH).
subclass of: Epilepsy
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D012640
putative class extension: Auditory Seizures
putative class extension: Clonic Seizures
putative class extension: Focal Seizures
putative class extension: Generalized Seizures
putative class extension: Gustatory Seizures
putative class extension: Jacksonian Seizure
putative class extension: Motor Seizures
putative class extension: Olfactory Seizures
putative class extension: Sensory Seizures
putative class extension: Somatosensory Seizures
putative class extension: Tonic Seizures
putative class extension: Tonic-Clonic Seizures
putative class extension: Vertiginous Seizures
putative class extension: Vestibular Seizures
putative class extension: Visual Seizures
usage note: MeSH includes implied subtypes based on the inducing stimulus

Febrile Seizures
type: Class
synonym: Febrile Convulsion Seizure
synonym: Febrile Convulsions
synonym: Febrile Fit
synonym: Fever Convulsion
synonym: Fever Seizure
synonym: Pyrexial Convulsion
synonym: Pyrexial Seizure
definition: Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder." (MeSH).
subclass of: Epilepsy
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D003294
putative class extension: Complex Febrile Seizure
putative class extension: Simple Febrile Seizure
usage note: MeSH includes implied subtypes

Status Epilepticus
type: Class
definition: A prolonged seizure or seizures repeated frequently enough to prevent recovery between episodes occurring over a period of 20-30 minutes. The most common subtype is generalized tonic-clonic status epilepticus, a potentially fatal condition associated with neuronal injury and respiratory and metabolic dysfunction. Nonconvulsive forms include petit mal status and complex partial status, which may manifest as behavioral disturbances. Simple partial status epilepticus consists of persistent motor, sensory, or autonomic seizures that do not impair cognition (see also EPILEPSIA PARTIALIS CONTINUA). Subclinical status epilepticus generally refers to seizures occurring in an unresponsive or comatose individual in the absence of overt signs of seizure activity (MeSH).
subclass of: Epilepsy
created date: 2007-10-08
modified date: 2007-10-08
defining citation: N Engl J Med 1998 Apr 2;338(14):970-6; Neurologia 1997 Dec;12 Suppl 6:25-30
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D013226
nif ID: _8.3_5.3
putative class extension: Absence Status
putative class extension: Complex Partial Status Epilepticus
putative class extension: Electrographic Status Epilepticus
putative class extension: Generalized Convulsive Status Epilepticus
putative class extension: Generalized Status Epilepticus
putative class extension: Grand Mal Status Epilepticus
putative class extension: Non-Convulsive Status Epilepticus
putative class extension: Petit Mal Status
putative class extension: Simple Partial Status Epilepticus
putative class extension: Subclinical Status Epilepticus
usage note: MeSH includes implied subtypes

Epilepsia Partialis Continua
type: Class
synonym: Kojevnikov's Epilepsy
synonym: Kojewnikow Syndrome
synonym: Kozhevnikov Syndrome
definition: A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. ELECTROENCEPHALOGRAPHY demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the CEREBRAL CORTEX or from subcortical structures (e.g., BRAIN STEM; BASAL GANGLIA). This condition is associated with Russian Spring and Summer encephalitis (see ENCEPHALITIS, TICK BORNE); Rasmussen syndrome (see ENCEPHALITIS); MULTIPLE SCLEROSIS; DIABETES MELLITUS; BRAIN NEOPLASMS; and CEREBROVASCULAR DISORDERS (MeSH).
subclass of: Status Epilepticus
created date: 2007-10-08
modified date: 2007-10-08
defining citation: Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D017036
putative class extension: Chronic Progressive Epilepsia Partialis Continua
putative class extension: Progressive Variant Kozhevnikow Syndrome
usage note: MeSH includes implied subtypes

Mood Disorder
type: Class
synonym: Affective Disorder
definition: Those disorders that have a disturbance in mood as their predominant feature. (MeSH).
subclass of: Mental Disorder
editorial note: human only; do not confuse with AFFECTIVE SYMPTOMS (MeSH).
created date: 2007-10-05
modified date: 2007-10-05
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D019964

Affective Psychotic Disorder
type: Class
synonym: Affective Psychosis
synonym: Psychotic Mood Disorder
synonym: Reactive Psychotic Depression
definition: Disorders in which the essential feature is a severe disturbance in mood (depression, anxiety, elation, and excitement) accompanied by psychotic symptoms such as delusions, hallucinations, gross impairment in reality testing, etc. (MeSH).
subclass of: Mood Disorder
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D000341

Bipolar Disorder
type: Class
synonym: Affective Bipolar Psychosis
synonym: Bipolar Depression
synonym: Manic-Depressive Psychosis
definition: A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence (MeSH).
subclass of: Affective Psychotic Disorder
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D001714
nif ID: _8.3_11.3
putative class extension: Mania
putative class extension: Manic Disorder
putative class extension: Manic State
usage note: MeSH includes implied subcomponents

Cyclothymic Disorder
type: Class
synonym: Cyclothymic Personality
definition: An affective disorder characterized by periods of depression and hypomania. These may be separated by periods of normal mood (MeSH).
subclass of: Bipolar Disorder
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D003527

Depressive Disorder
type: Class
synonym: Depressive Neurosis
synonym: Depressive Syndrome
synonym: Endogenous Depression
synonym: Melancholia
synonym: Neurotic Depression
synonym: Unipolar Depression
definition: An affective disorder manifested by either a dysphoric mood or loss of interest or pleasure in usual activities. The mood disturbance is prominent and relatively persistent (MeSH).
subclass of: Mood Disorder
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D003866
nif ID: _8.3_11.2

Postpartum Depression
type: Class
synonym: Post-Natal Depression
synonym: Post-Partum Depression
definition: Depression in POSTPARTUM WOMEN, usually within four weeks after giving birth ( PARTURITION). The degree of depression ranges from mild transient depression to neurotic or psychotic depressive disorders (MeSH).
subclass of: Depressive Disorder
created date: 2007-10-08
modified date: 2007-10-08
defining citation: DSM-IV, p386
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D019052

Major Depressive Disorder
type: Class
synonym: Involutional Depression
synonym: Involutional Melancholia
synonym: Involutional Paraphrenia
synonym: Involutional Psychosis
definition: Marked depression appearing in the involution period and characterized by hallucinations, delusions, paranoia, and agitation. (MeSH).
subclass of: Depressive Disorder
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D003865

Dysthymic Disorder
type: Class
definition: Chronically depressed mood that occurs for most of the day more days than not for at least 2 years. The required minimum duration in children to make this diagnosis is 1 year. During periods of depressed mood, at least 2 of the following additional symptoms are present: poor appetite or overeating, insomnia or hypersomnia, low energy or fatigue, low self esteem, poor concentration or difficulty making decisions, and feelings of hopelessness (MeSH).
subclass of: Depressive Disorder
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D019263

Seasonal Affective Disorder
type: Class
synonym: Seasonal Mood Disorder
definition: A syndrome characterized by depressions that recur annually at the same time each year, usually during the winter months. Other symptoms include anxiety, irritability, decreased energy, increased appetite (carbohydrate cravings), increased duration of sleep, and weight gain. SAD (seasonal affective disorder) can be treated by daily exposure to bright artificial lights ( PHOTOTHERAPY), during the season of recurrence (MeSH).
subclass of: Depressive Disorder
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D016574

Psychotic Disorder
type: Class
synonym: Psychosis
definition: Those disorders that have a disturbance in mood as their predominant feature. (MeSH).
subclass of: Mental Disorder
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D011618
nif ID: _8.3_11.5
putative class extension: Brief Reactive Psychosis
putative class extension: Schizoaffective Disorder
putative class extension: Schizophreniform Disorder
usage note: MeSH includes implied subcomponents

Capgras Syndrome
type: Class
subclass of: Psychotic Disorder
created date: 2007-10-08
modified date: 2007-10-08
externally sourced definition: A psychotic disorder characterized by the patient's belief that acquaintances or closely related persons have been replaced by doubles or imposters. (MeSH)
has birnlex curator: Jessica Turner
has curation status: uncurated
has external source: UMLS
mesh uid: D002194

Paranoid Disorder
type: Class
synonym: Paranoia
synonym: Paranoid Psychosis
synonym: Psychosis
subclass of: Psychotic Disorder
created date: 2007-10-08
modified date: 2007-10-08
externally sourced definition: Chronic mental disorders in which there has been an insidious development of a permanent and unshakeable delusional system (persecutory delusions or delusions of jealousy), accompanied by preservation of clear and orderly thinking. Emotional responses and behavior are consistent with the delusional state. (MeSH)
has birnlex curator: Jessica Turner
has curation status: uncurated
has external source: UMLS
mesh uid: D010259

Catatonic Schizophrenia
type: Class
subclass of: Schizophrenia
created date: 2007-10-08
modified date: 2007-10-08
externally sourced definition: A type of schizophrenia characterized by abnormality of motor behavior which may involve particular forms of stupor, rigidity, excitement or inappropriate posture (MeSH)
has birnlex curator: Jessica Turner
has curation status: uncurated
has external source: UMLS
mesh uid: D012560

Disorganized Schizophrenia
type: Class
synonym: Hebephrenic Schizophrenia
subclass of: Schizophrenia
created date: 2007-10-08
modified date: 2007-10-08
defining citation: Dorland, 27th ed
externally sourced definition: A type of schizophrenia characterized by frequent incoherence; marked loosening of associations, or grossly disorganized behavior and flat or grossly inappropriate affect that does not meet the criteria for the catatonic type; associated features include extreme social withdrawal, grimacing, mannerisms, mirror gazing, inappropriate giggling, and other odd behavior (MeSH)
has birnlex curator: Jessica Turner
has curation status: uncurated
has external source: UMLS
mesh uid: D012562

Paranoid Schizophrenia
type: Class
synonym: Delusional Disorder
subclass of: Schizophrenia
created date: 2007-10-08
modified date: 2007-10-08
externally sourced definition: A chronic form of schizophrenia characterized primarily by the presence of persecutory or grandiose delusions, often associated with hallucination (MeSH)
has birnlex curator: Jessica Turner
has curation status: uncurated
has external source: UMLS
mesh uid: D012563

Shared Paranoid Disorder
type: Class
synonym: Folie a Deux
synonym: Folie a Trois
synonym: Shared Psychotic Disorder
subclass of: Schizophrenia
created date: 2007-10-08
modified date: 2007-10-08
externally sourced definition: A condition in which two closely related persons, usually in the same family, share the same delusions. (MeSH)
has birnlex curator: Jessica Turner
has curation status: uncurated
has external source: UMLS
mesh uid: D012753

Pervasive Development Disorder
type: Class
synonym: Pervasive Child Development Disorder
definition: Severe distortions in the development of many basic psychological functions that are not normal for any stage in development. These distortions are manifested in sustained social impairment, speech abnormalities, and peculiar motor movements (MeSH).
subclass of: Mental Disorder
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D002659

Asperger Syndrome
type: Class
synonym: Asperger's Disorder
definition: A childhood disorder predominately affecting boys and similar to autism ( AUTISTIC DISORDER). It is characterized by severe, sustained, clinically significant impairment of social interaction, and restricted repetitive and stereotyped patterns of behavior. In contrast to autism, there are no clinically significant delays in language or cognitive development (MeSH).
subclass of: Pervasive Development Disorder
created date: 2007-10-08
modified date: 2007-10-08
defining citation: DSM-IV
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020817

Rett Syndrome
type: Class
synonym: Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome
synonym: Cerebroatrophic Hyperammonemia
synonym: Rett Disorder
definition: An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear (MeSH).
subclass of: Pervasive Development Disorder
created date: 2007-10-08
modified date: 2007-10-08
defining citation: Menkes, Textbook of Child Neurology, 5th ed, p199
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D015518

Consciousness Disorder
type: Class
synonym: Altered Level of Consciousness
synonym: Depressed Level of Consciousness
synonym: Semiconsciousness
definition: Organic mental disorders in which there is impairment of the ability to maintain awareness of self and environment and to respond to environmental stimuli. Dysfunction of the cerebral hemispheres or brain stem RETICULAR FORMATION may result in this condition (MeSH).
subclass of: Mental Disorder
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D003244
nif ID: _8.3_17

Unconsciousness
type: Class
synonym: Loss of Consciousness
synonym: Unconscious State
definition: Organic mental disorders in which there is impairment of the ability to maintain awareness of self and environment and to respond to environmental stimuli. Dysfunction of the cerebral hemispheres or brain stem RETICULAR FORMATION may result in this condition (MeSH).
subclass of: Mental Disorder
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D014474

Coma
type: Class
synonym: Comatose
synonym: Loss of Consciousness
synonym: Pseudocoma
definition: A profound state of unconsciousness associated with depressed cerebral activity from which the individual cannot be aroused. Coma generally occurs when there is dysfunction or injury involving both cerebral hemispheres or the brain stem RETICULAR FORMATION. This includes Feigned coma or psychogenic coma. These patients appear comatose (i.e., unresponsive, unarousable, or both) but have no structural lesion, metabolic or toxic disorder (MeSH).
subclass of: Mental Disorder
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D003128
nif ID: _8.3_17.3

Persistent Vegetative State
type: Class
synonym: Permanent Vegetative State
synonym: Postcomatose Unawareness State
synonym: Posttraumatic Unawareness State
synonym: Posttraumatic Vegetative State
synonym: Prolonged Posttraumatic Unawareness
synonym: Vegetative State
definition: Vegetative state refers to the neurocognitive status of individuals with severe brain damage, in whom physiologic functions (sleep-wake cycles, autonomic control, and breathing) persist, but awareness (including all cognitive function and emotion) is abolished (MeSH).
subclass of: Mental Disorder
created date: 2007-10-08
modified date: 2007-10-08
acronym: PVS
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D018458
nif ID: _8.3_17.2
putative class extension: Transient Vegetative State
usage note: MeSH includes implied subtypes

Stupor
type: Class
synonym: Narcosis
definition: A state of reduced sensibility and response to stimuli which is distinguished from COMA in that the person can be aroused by vigorous and repeated stimulation. The person is still conscious and can make voluntary movements. It can be induced by CENTRAL NERVOUS SYSTEM AGENTS. The word derives from Latin stupere and is related to stunned, stupid, dazed or LETHARGY (MeSH).
subclass of: Mental Disorder
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D053608

Syncope
type: Class
synonym: Drop Attack
synonym: Syncopal Episode
synonym: Syncopal Vertigo
definition: A transient loss of consciousness and postural tone caused by diminished blood flow to the brain (i.e., BRAIN ISCHEMIA). Presyncope refers to the sensation of lightheadedness and loss of strength that precedes a syncopal event or accompanies an incomplete syncope (MeSH).
subclass of: Mental Disorder
created date: 2007-10-08
modified date: 2007-10-08
defining citation: Adams et al., Principles of Neurology, 6th ed, pp367-9
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D013575
putative class extension: Cardiogenic Syncope
putative class extension: Carotid Sinus Syncope
putative class extension: Convulsive Syncope
putative class extension: Deglutitional Syncope
putative class extension: Effort Syncope
putative class extension: Hyperventilation Syncope
putative class extension: Micturition Syncope
putative class extension: Postural Syncope
putative class extension: Situational Syncope
putative class extension: Stokes-Adams Syncope
putative class extension: Tussive Syncope
usage note: MeSH includes implied subtypes based mostly on cause

Vasovagal Syncope
type: Class
synonym: Cerebral Syncope
synonym: Malignant Neurocardiogenic Syncope
synonym: Neurally Mediated Faint
synonym: Neurally-Mediated Vasovagal Syncope
synonym: Neurocardiogenic Syncope
synonym: Neurogenic Syncope
synonym: Supine Syncope
synonym: Vasodepressor Syncope
definition: Loss of consciousness due to a reduction in blood pressure that is associated with an increase in vagal tone and peripheral vasodilation (MeSH).
subclass of: Syncope
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D019462

Minimally Conscious State
type: Class
subclass of: Mental Disorder
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D018458
nif ID: _8.3_17.1

Muscular Disease
type: Class
synonym: Muscle Disorder
synonym: Myopathy
definition: Acquired, familial, and congenital disorders of skeletal muscle ( MUSCLE, SKELETAL) and smooth muscle ( MUSCLE, SMOOTH) (MeSH).
subclass of: Disease
editorial note: Note BIRNLex seeks to evolve a core subsumptive disease hierarchy based first on the effected function, then the effected structure, the latter for those categories of nervous system disease that have typically been associated with structural abnormalities or trauma (e.g., Motor neuron diseases, cerebrovascular trauma, etc.). Disease causation is in fact the ultimate goal of much biomedical research, and our recognitition of ALL the driving causes of a particular disease - and the ways in which these causes inter-relate with each other and with effected structures to cause a change in normal function is a critical representational task BIRNlex will increasingly take on to provide an evolving, nuanced functional reconstruction of disease as a process and an outcome. These relations will be represented using OWL ObjectProperties. Function is the most sensible context to drive the asserted subsumptive hierarchy for representing nervous system disease, since it is with the clinical description of altered, impaired, decreased, or lost function that the diagnosis - and the research - of disease is rooted. Much has already been described regarding both the effected biomaterial entities and the causes of disease. However, it is because understanding of such relations still is far from comprehensive, that biomedical investigation into nervous system disease continues. Finally, given the "realist" ontology design approach being used to construct BIRNLex, function must be represented as inhering in some biomaterial entity from molecules and their controlling elements on up through gross anatomical structures. Over time, BIRNLex will provide the required relations to depict these functionally-related structures for both the normal and pathological function of the nervous system. This will be true both for the causes and for the outcomes of nervous system disease. Initial work to extend this expressive representation will focus on the neurodegenerative diseases being studied by …
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D009135
nif ID: _8.3_8

Cerebrovascular Disorder
type: Class
synonym: Brain Vascular Disorder
synonym: Cerebrovascular Insufficiency
synonym: Intracranial Vascular Disorder
definition: A broad category of disorders characterized by impairment of blood flow in the arteries and veins which supply the brain. These include CEREBRAL INFARCTION; BRAIN ISCHEMIA; HYPOXIA, BRAIN; INTRACRANIAL EMBOLISM AND THROMBOSIS; INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; and VASCULITIS, CENTRAL NERVOUS SYSTEM. In common usage, the term cerebrovascular disorders is not limited to conditions that affect the cerebrum, but refers to vascular disorders of the entire brain including the DIENCEPHALON; BRAIN STEM; and CEREBELLUM (MeSH).
subclass of: Nervous system disease
editorial note: Note BIRNLex seeks to evolve a core subsumptive disease hierarchy based first on the effected function, then the effected structure, the latter for those categories of nervous system disease that have typically been associated with structural abnormalities or trauma (e.g., Motor neuron diseases, cerebrovascular trauma, etc.). Disease causation is in fact the ultimate goal of much biomedical research, and our recognitition of ALL the driving causes of a particular disease - and the ways in which these causes inter-relate with each other and with effected structures to cause a change in normal function is a critical representational task BIRNlex will increasingly take on to provide an evolving, nuanced functional reconstruction of disease as a process and an outcome. These relations will be represented using OWL ObjectProperties. Function is the most sensible context to drive the asserted subsumptive hierarchy for representing nervous system disease, since it is with the clinical description of altered, impaired, decreased, or lost function that the diagnosis - and the research - of disease is rooted. Much has already been described regarding both the effected biomaterial entities and the causes of disease. However, it is because understanding of such relations still is far from comprehensive, that biomedical investigation into nervous system disease continues. Finally, given the "realist" ontology design approach being used to construct BIRNLex, function must be represented as inhering in some biomaterial entity from molecules and their controlling elements on up through gross anatomical structures. Over time, BIRNLex will provide the required relations to depict these functionally-related structures for both the normal and pathological function of the nervous system. This will be true both for the causes and for the outcomes of nervous system disease. Initial work to extend this expressive representation will focus on the neurodegenerative diseases being studied by …
created date: 2007-10-08
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D002561
nif ID: _8.3_1

Brain Ischemia
type: Class
synonym: Cerebral Ischemia
synonym: Ischemic Brain Injury
synonym: Ischemic Encephalopathy
definition: Localized reduction of blood flow to brain tissue due to arterial obstruction or systemic hypoperfusion. This frequently occurs in conjunction with brain hypoxia ( HYPOXIA, BRAIN). Prolonged ischemia is associated with BRAIN INFARCTION (MeSH).
subclass of: Cerebrovascular Disorder
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D002545
nif ID: _8.3_1.1

Cerebrovascular Accident
type: Class
synonym: Apoplexy
synonym: Cerebral Stroke
synonym: Cerebrovascular Apoplexya
synonym: Cerebrovascular Stroke
synonym: Stroke
definition: A sudden, nonconvulsive loss of neurologic function due to an ischemic or hemorrhagic intracranial vascular event. In general, cerebrovascular accidents are classified by anatomic location in the brain, vascular distribution, etiology, age of the affected individual, and hemorrhagic vs. nonhemorrhagic nature (MeSH).
subclass of: Cerebrovascular Disorder
created date: 2007-10-08
modified date: 2007-10-08
acronym: CVA
defining citation: Adams et al., Principles of Neurology, 6th ed, pp777-810
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020521
nif ID: _8.3_1

Brain Infarction
type: Class
definition: The formation of an area of necrosis in the brain, including the cerebral hemispheres (see CEREBRAL INFARCTION), thalami, basal ganglia, brain stem ( BRAIN STEM INFARCTIONS), or cerebellum secondary to an insufficiency of arterial or venous blood flow (MeSH).
subclass of: Cerebrovascular Accident
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020520
putative class extension: Anterior Cerebral Circulation Infarction
putative class extension: Anterior Circulation Brain Infarction
putative class extension: Lacunar Infarction
putative class extension: Posterior Circulation Brain Infarction
putative class extension: Venous Brain Infarction
usage note: MeSH includes implied subtypes based on the effected vessels

Brain Stem Infarction
type: Class
synonym: Brainstem Stroke
definition: Infarctions that occur in the brain stem which is comprised of the midbrain, pons, and medulla. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury (MeSH).
subclass of: Brain Infarction
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020526

Claude Syndrome
type: Class
definition: Anatomical location: Midbrain Tegmentum; Vasculature: Posterior cerebral artery; Symptoms: Ataxia - arm and leg - also Oculomotor palsy with contralateral tremor and ataxia
subclass of: Brain Stem Infarction
created date: 2007-10-08
modified date: 2007-10-08
defining citation URI: http://www.strokecenter.org/prof/syndromes/syndromePage15.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020526

Foville Syndrome
type: Class
synonym: Inferior medial pontine syndrome
definition: Anatomical location: Pons - Unilateral lesion in the dorsal pontine tegmentum in the caudal third of the pons; Vasculature: Basilar artery, Paramedian and Short circumferential branches; Symptoms: contralateral - weakness in upper and lower extremity - ipsilateral: weakness in entire side of face, as well as lateral gaze weakness
subclass of: Brain Stem Infarction
created date: 2007-10-08
modified date: 2007-10-08
defining citation URI: http://www.strokecenter.org/prof/syndromes/syndromePage24.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020526

Millard-Gubler Syndrome
type: Class
synonym: Ventral pontine syndrome
definition: Anatomical location: Pons - Basis pontis and fascicles of CN VI amd VII; Vasculature: Basilar artery, Paramedian and Short circumferential branches; Symptoms: contralateral - weakness in upper and lower extremity - ipsilateral: weakness in entire side of face, as well as lateral gaze weakness
subclass of: Brain Stem Infarction
created date: 2007-10-08
modified date: 2007-10-08
defining citation URI: http://www.strokecenter.org/prof/syndromes/syndromePage23.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020526

Weber Syndrome
type: Class
definition: Anatomical location: Base of Midbrain; Vasculature: Posterior cerebral artery: Penetrating branches to midbrain; Symptoms: contralateral - weakness in upper and lower extremity - ipsilateral: lateral gaze weakness
subclass of: Brain Stem Infarction
created date: 2007-10-08
modified date: 2007-10-08
defining citation URI: http://www.strokecenter.org/prof/syndromes/syndromePage11.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020526

Wallenberg Syndrome
type: Class
synonym: Dorsolateral Medullary Syndrome
synonym: Lateral Bulbar syndrome
synonym: Lateral medullary syndrome
synonym: Posterior Inferior Cerebellar Artery Syndrome
synonym: Vieseaux-Wallenberg Syndrome
definition: Infarction of the dorsolateral aspect of the medulla due to occlusion of the vertebral artery and/or the posterior inferior cerebellar artery. Clinical manifestations vary with the size of infarction, but may include loss of pain and temperature sensation in the ipsilateral face and contralateral body below the chin; ipsilateral HORNER SYNDROME; ipsilateral ATAXIA; DYSARTHRIA; VERTIGO; nausea, hiccup; dysphagia; and VOCAL CORD PARALYSIS (MeSH)
subclass of: Brain Stem Infarction
created date: 2007-10-08
modified date: 2007-10-08
defining citation URI: http://www.strokecenter.org/prof/syndromes/syndromePage9.htm
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D014854

Cerebral Infarction
type: Class
definition: The formation of an area of necrosis in the cerebrum caused by an insufficiency of arterial or venous blood flow. Infarcts of the cerebrum are generally classified by hemisphere (i.e., left vs. right), lobe (e.g., frontal lobe infarction), arterial distribution (e.g., INFARCTION, ANTERIOR CEREBRAL ARTERY), and etiology (e.g., embolic infarction) (MeSH).
subclass of: Brain Infarction
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D002544
putative class extension: Anterior Choroidal Artery Infarction
putative class extension: Left Hemisphere Cerebral Infarction
putative class extension: Right Hemisphere Cerebral Infarction
putative class extension: Subcortical Infarction
usage note: MeSH includes implied subtypes based mostly on gross anatomical location or effected vessel

Anterior Cerebral Artery Infarction
type: Class
synonym: ACA Infarction
synonym: Anterior Cerebral Artery Circulation Infarction
synonym: Anterior Cerebral Artery Distribution Infarction
synonym: Anterior Cerebral Artery Stroke
synonym: Anterior Cerebral Artery Syndrome
synonym: Heubner Artery Infarction
definition: An infarction in the vascular distribution of the anterior cerebral artery which supplies the majority of the medial surface of the cerebral hemispheres, and provides branches (including Heubner's artery) to the anterior limb of the internal capsule, head of the CAUDATE NUCLEUS, and anterior GLOBUS PALLIDUS. Clinical manifestations may include contralateral lower extremity weakness and sensory loss. Bilateral anterior cerebral artery infarctions are associated with abulia, PARAPLEGIA, and URINARY INCONTINENCE (MeSH).
subclass of: Cerebral Infarction
created date: 2007-10-08
modified date: 2007-10-08
defining citation: Adams et al., Principles of Neurology, 6th ed, pp789-93
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020243

Middle Cerebral Artery Infarction
type: Class
synonym: MCA Infarction
synonym: Middle Cerebral Artery Circulation Infarction
synonym: Middle Cerebral Artery Stroke
synonym: Middle Cerebral Artery Syndrome
definition: The formation of an area of necrosis in the cerebrum caused by an insufficiency of arterial or venous blood flow. Infarcts of the cerebrum are generally classified by hemisphere (i.e., left vs. right), lobe (e.g., frontal lobe infarction), arterial distribution (e.g., INFARCTION, ANTERIOR CEREBRAL ARTERY), and etiology (e.g., embolic infarction) (MeSH).
subclass of: Cerebral Infarction
created date: 2007-10-08
modified date: 2007-10-08
defining citation: Adams et al., Principles of Neurology, 6th ed, pp793-8
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020244
putative class extension: Left Middle Cerebral Artery Infarction
putative class extension: Middle Cerebral Artery Embolic Infarction
putative class extension: Middle Cerebral Artery Embolus
putative class extension: Middle Cerebral Artery Occlusion
putative class extension: Middle Cerebral Artery Thrombosis
putative class extension: Middle Cerebral Artery Thrombotic Infarction
putative class extension: Right Middle Cerebral Artery Infarction
usage note: MeSH includes implied subtypes based mostly on cause or effected vessel

Posterior Cerebral Artery Infarction
type: Class
synonym: PCA Infarction
synonym: Posterior Cerebral Artery Stroke
synonym: Posterior Cerebral Artery Syndrome
definition: Formation of an area of coagulation necrosis induced by ischemia in the vascular distribution of the posterior cerebral artery. This artery supplies portions of the MESENCEPHALON (see also BRAIN STEM INFARCTIONS) and thalamus, inferomedial TEMPORAL LOBE, and medial OCCIPITAL LOBE. Clinical manifestations vary with the size and location of infarction, but include a variety of midbrain and thalamic syndromes, HEMIANOPSIA, and behavioral syndromes related to memory and processing visual information (MeSH).
subclass of: Cerebral Infarction
created date: 2007-10-08
modified date: 2007-10-08
defining citation: Adams et al., Principles of Neurology, 6th ed, p786
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D020762
putative class extension: Posterior Cerebral Artery Embolic Infarction
putative class extension: Posterior Cerebral Artery Thrombotic Infarction
usage note: MeSH includes the following implied subtypes based mostly on cause or effected vessel: ;

Cerebral Hemorrhage
type: Class
synonym: Cerebral Brain Hemorrhage
synonym: Cerebral Parenchymal Hemorrhage
synonym: Cerebrum Hemorrhage
synonym: Intracerebral Hemorrhage
definition: Bleeding into a cerebral hemisphere of the brain, including lobar, subcortical white matter, and basal ganglia hemorrhages. Commonly associated conditions include HYPERTENSION; INTRACRANIAL ARTERIOSCLEROSIS; INTRACRANIAL ANEURYSM; CRANIOCEREBRAL TRAUMA; INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; CEREBRAL AMYLOID ANGIOPATHY; and CEREBRAL INFARCTION (MeSH).
subclass of: Cerebrovascular Disorder
created date: 2007-10-08
modified date: 2007-10-08
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D002543
nif ID: _8.3_1.2

Nervous system disease
type: Class
synonym: Nervous system disorder
definition: Diseases of the central and peripheral nervous system. This includes disorders of the brain, spinal cord, cranial nerves, peripheral nerves, nerve roots, autonomic nervous system, neuromuscular junction, and muscle (MeSH).
subclass of: Disease
editorial note: Note BIRNLex seeks to evolve a core subsumptive disease hierarchy based first on the effected function, then the effected structure, the latter for those categories of nervous system disease that have typically been associated with structural abnormalities or trauma (e.g., Motor neuron diseases, cerebrovascular trauma, etc.). Disease causation is in fact the ultimate goal of much biomedical research, and our recognitition of ALL the driving causes of a particular disease - and the ways in which these causes inter-relate with each other and with effected structures to cause a change in normal function is a critical representational task BIRNlex will increasingly take on to provide an evolving, nuanced functional reconstruction of disease as a process and an outcome. These relations will be represented using OWL ObjectProperties. Function is the most sensible context to drive the asserted subsumptive hierarchy for representing nervous system disease, since it is with the clinical description of altered, impaired, decreased, or lost function that the diagnosis - and the research - of disease is rooted. Much has already been described regarding both the effected biomaterial entities and the causes of disease. However, it is because understanding of such relations still is far from comprehensive, that biomedical investigation into nervous system disease continues. Finally, given the "realist" ontology design approach being used to construct BIRNLex, function must be represented as inhering in some biomaterial entity from molecules and their controlling elements on up through gross anatomical structures. Over time, BIRNLex will provide the required relations to depict these functionally-related structures for both the normal and pathological function of the nervous system. This will be true both for the causes and for the outcomes of nervous system disease. Initial work to extend this expressive representation will focus on the neurodegenerative diseases being studied by …
created date: 2007-11-18
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D009422
umls cui: C0027765

Eye disease
type: Class
synonym: Disease of eye
synonym: Eye disorder
synonym: Occular disease
synonym: Ophthalmic disorder
synonym: Ophthalmological disorder
definition: * Diseases or defects of the eye. Use VISION DISORDERS for other pathology involving visual neural pathways. (PSY) * impairment of health or a condition of abnormal functioning of the organ of sight. (CSP)
subclass of: Disease
editorial note: Note BIRNLex seeks to evolve a core subsumptive disease hierarchy based first on the effected function, then the effected structure, the latter for those categories of nervous system disease that have typically been associated with structural abnormalities or trauma (e.g., Motor neuron diseases, cerebrovascular trauma, etc.). Disease causation is in fact the ultimate goal of much biomedical research, and our recognitition of ALL the driving causes of a particular disease - and the ways in which these causes inter-relate with each other and with effected structures to cause a change in normal function is a critical representational task BIRNlex will increasingly take on to provide an evolving, nuanced functional reconstruction of disease as a process and an outcome. These relations will be represented using OWL ObjectProperties. Function is the most sensible context to drive the asserted subsumptive hierarchy for representing nervous system disease, since it is with the clinical description of altered, impaired, decreased, or lost function that the diagnosis - and the research - of disease is rooted. Much has already been described regarding both the effected biomaterial entities and the causes of disease. However, it is because understanding of such relations still is far from comprehensive, that biomedical investigation into nervous system disease continues. Finally, given the "realist" ontology design approach being used to construct BIRNLex, function must be represented as inhering in some biomaterial entity from molecules and their controlling elements on up through gross anatomical structures. Over time, BIRNLex will provide the required relations to depict these functionally-related structures for both the normal and pathological function of the nervous system. This will be true both for the causes and for the outcomes of nervous system disease. Initial work to extend this expressive representation will focus on the neurodegenerative diseases being studied by …
created date: 2007-11-18
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: UMLS defSource
has external source: UMLS
mesh uid: D005128
umls cui: C0015397

Retinal disease
type: Class
synonym: retinal disorder
synonym: retinopathia
synonym: retinopathy
definition: Pathologic condition of the innermost of the three tunics of the eyeball or retina. (CSP)
subclass of: Eye disease
created date: 2007-11-18
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: UMLS defSource
has external source: UMLS
mesh uid: D012164
umls cui: C0035309

Retinal degeneration
type: Class
synonym: degeneration of retina
definition: * a retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. Degeneration affecting predominantly the macula lutea of the retina is MACULAR DEGENERATION. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p304) (MSH) * retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. (CSP)
subclass of: Retinal disease
created date: 2007-11-18
modified date: 2007-11-18
defining citation: Newell, Ophthalmology: Principles and Concepts, 7th ed, p304
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: UMLS defSource
has external source: UMLS
mesh uid: D012162
putative class extension: Generalized retinal degeneration
putative class extension: Ophthalmoplegic-retinal degeneration syndrome
umls cui: C0035304

Paving stone retinal degeneration
type: Class
synonym: Cobblestone retinal degeneration
subclass of: Retinal degeneration
created date: 2007-11-18
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: UMLS
umls cui: C0154854

Deafmutism-retinal degeneration syndrome
type: Class
synonym: Dalinas-Amalric syndrome
synonym: Diallinas-Amalric syndrome
subclass of: Retinal degeneration
created date: 2007-11-18
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: UMLS
umls cui: C0271504

Glaucomatous retinal degeneration
type: Class
synonym: Glaucomatous retinal degeneration syndrome
subclass of: Retinal degeneration
created date: 2007-11-18
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: UMLS
umls cui: C0521686

Myopic chorioretinal atrophy
type: Class
synonym: Gross myopic retinal degeneration
synonym: Myopic chorioretinal atrophy disorder
synonym: Myopic chorioretinal degeneration
synonym: Peripheral myopic atrophy
subclass of: Retinal degeneration
created date: 2007-11-18
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: UMLS
umls cui: C0339422

Retinal lattice degeneration
type: Class
synonym: Lattice retinal degeneration
synonym: Palisade degeneration of retina
synonym: Retinal lattice degeneration disorder
subclass of: Retinal degeneration
created date: 2007-11-18
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: UMLS
umls cui: C0154856

Multifocal retinal degeneration
type: Class
synonym: Multifocal retinal degeneration disorder
subclass of: Retinal degeneration
created date: 2007-11-18
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: UMLS
umls cui: C0521689

Peripheral retinal degeneration
type: Class
synonym: Peripheral degeneration of retina
synonym: Peripheral retinal degeneration disorder
subclass of: Retinal degeneration
created date: 2007-11-18
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: UMLS
umls cui: C1320640

Snowflake retinal degeneration
type: Class
synonym: Snowflake retinal degeneration disorder
subclass of: Retinal degeneration
created date: 2007-11-18
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: UMLS
umls cui: C0339443

Peripheral snowflake retinal degeneration
type: Class
synonym: Peripheral snowflake retinal degeneration disorder
synonym: Snowflake retinal degeneration
subclass of: Snowflake retinal degeneration
created date: 2007-11-18
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: UMLS
umls cui: C0344291

Snail-track retinal degeneration
type: Class
synonym: Snail-track retinal degeneration disorder
subclass of: Retinal degeneration
created date: 2007-11-18
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: UMLS
umls cui: C0339442

Sudden acquired retinal degeneration
type: Class
synonym: Sudden acquired retinal degeneration disorder
subclass of: Retinal degeneration
created date: 2007-11-18
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: UMLS
umls cui: C0521690

Macular degeneration
type: Class
synonym: Maculadegeneration
definition: * degenerative changes in the macula lutea of the retina. (MSH) * deterioration of the macula lutea in the retina; may be inherited, drug induced, or due to aging; leads to a severe loss of central vision while peripheral vision is retained. (CSP)
subclass of: Retinal degeneration
created date: 2007-11-18
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: UMLS defSource
has external source: MeSH
mesh uid: D008268
umls cui: C0024437

Age-related macular degeneration
type: Class
synonym: Age related maculopathy
synonym: Senile macular degeneration
synonym: Senile macular degeneration of retina
subclass of: Macular degeneration
created date: 2007-11-18
modified date: 2007-11-18
acronym: AMD
acronym: ARMD
acronym: SMD
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: UMLS
putative class extension: Degeneration of macula and posterior pole
umls cui: C0242383

Dry senile macular retinal degeneration
type: Class
synonym: Atrophic age-related macular degeneration
synonym: Atrophic senile macular retinal degeneration
synonym: Geographic atrophy of macula
synonym: Nonexudative age-related macular degeneration
synonym: Nonexudative age-related macular degeneration disorder
synonym: Nonexudative senile macular degeneration
synonym: Nonexudative senile macular retinal degeneration disorder
synonym: Nonneovascular age-related macular degeneration
subclass of: Age-related macular degeneration
created date: 2007-11-18
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: UMLS
umls cui: C0271083

Cystoid macular retinal degeneration
type: Class
synonym: Central cystoid Retinal Edema
synonym: Cystoid Macular Edema
definition: Fluid accumulation in the outer layer of the MACULA LUTEA at the center of the RETINA. Cystic spaces are formed and may lead to a macular depression or hole.
subclass of: Macular degeneration
created date: 2007-11-18
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D008269
umls cui: C0154850
umls cui: C0546382

Wet senile macular retinal degeneration
type: Class
synonym: Disciform senile macular retinal degeneration
synonym: Exudative age-related macular degeneration disorder
synonym: Exudative senile macular degeneration of retina
synonym: Exudative senile macular retinal degeneration
synonym: Junius-Kuhnt degeneration
synonym: Kuhnt-Junius degeneration
synonym: Kuhnt-Junius degeneration disorder
synonym: Subretinal neovascularization of macula
subclass of: Age-related macular degeneration
created date: 2007-11-18
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: UMLS
umls cui: C0271084

Familial macular degeneration
type: Class
subclass of: Macular degeneration
created date: 2007-11-18
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated

Familial juvenile macular degeneration
type: Class
synonym: Familial juvenile macular degeneration syndrome
synonym: Fundus flavimaculatus
synonym: Stargardts disease
subclass of: Familial macular degeneration
created date: 2007-11-18
modified date: 2007-11-18
acronym: FFM
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: UMLS
umls cui: C0271093

Familial pseudoinflammatory macular degeneration
type: Class
synonym: Familial pseudoinflammatory macular degeneration disorder
synonym: Sorsbys macular degeneration
subclass of: Familial macular degeneration
created date: 2007-11-18
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: UMLS
umls cui: C0520726

Retinal drusen
type: Class
synonym: Colloid bodies in retina
synonym: Degenerative drusen of retina
synonym: Drusen of retina
definition: Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium.
subclass of: Retinal degeneration
created date: 2007-11-18
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: MeSH
mesh uid: D015593
umls cui: C0035312

Retinitis Pigmentosa
type: Class
synonym: Chorioretinal heredodystrophy
synonym: Pigmentary retinopathy
synonym: Rod cone Dystrophy
synonym: Tapetoretinal degeneration
definition: * hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field. (MSH) * group of inherited abnormalities in the retina; characterized by night blindness, retinal atrophy, weakening of the retinal vessels, pigment clumping, and contraction of the visual field. (CSP)
subclass of: Retinal degeneration
created date: 2007-11-18
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: UMLS defSource
has external source: UMLS
mesh uid: D012174
umls cui: C0035334

Usher Syndrome
type: Class
synonym: dystrophia retinae pigmentosa-dysostosis syndrome
synonym: dystrophia retinae-dysacousis syndrome
synonym: Graefe-Usher syndrome
synonym: Hallgren syndrome
synonym: Hallgren's syndrome
synonym: Hallgrens syndrome
synonym: retinitis pigmentosa-congenital deafness syndrome
synonym: Retinitis pigmentosa-deafness syndrome
synonym: Usher's Syndrome
synonym: Ushers Syndrome
definition: * a hereditary disorder characterized by deaf-mutism, retinitis pigmentosa, and occasional mental retardation. Early cases were reported mainly in Jews in Germany but later observations came from Finland, Norway, France, England, Israel, Louisiana. (the Acadian type affecting 4.4 per 100,000), and other parts. Several types are recognized: Type I. Synonyms: Usher syndrome type I (US1, USH1) Usher syndrome type IA (US1A, USH1A) Usher syndrome, French type Type IB Synonyms: Usher syndrome type IB (US1B, USH1B) Usher syndrome, non-Acadian variety Type IC Synonyms: Usher syndrome type IC (US1C, USH1C) Usher syndrome, Acadian variety Profound congenital deafness with onset of retinitis pigmentosa by the age of 10 years. Type II Synonyms: Usher syndrome type II (US2, USH2) Type IIB Synonyms: Usher syndrome IIB (US2B, USH2B) Type III Synonyms: Usher syndrome type III (US3, USH3) Retinitis pigmentosa first noted at puberty with progressive hearing loss. Schizophrenia reported in some cases. Type IV Synonyms: Usher syndrome type IV (US4, USH4) Retinitis pigmentosa and deafness possibly transmitted as an X-linked trait. (JABL) * autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Genetically and symptomatically heterogeneous, clinical classes include type I, type II, and type III. Their severity, age of onset of retinitis pigmentosa and the degree of vestibular dysfunction are variable. (MSH) * hereditary disorder believed to occur in two forms: (1) characterized by congenital deafness and severe retinitis pigmentosa, and (2) in which the inner ear and retina are less severely affected; most cases are transmitted as autosomal recessive trait, but some forms are X-linked. (CSP)
subclass of: Multisystem disease
created date: 2007-11-18
modified date: April 11, 2009
acronym: DRD
acronym: US
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: UMLS defSource
has external source: UMLS
mesh uid: D052245
umls cui: C0271097

Multisystem disease
type: Class
subclass of: ConceptScheme
editorial note: Note BIRNLex seeks to evolve a core subsumptive disease hierarchy based first on the effected function, then the effected structure, the latter for those categories of nervous system disease that have typically been associated with structural abnormalities or trauma (e.g., Motor neuron diseases, cerebrovascular trauma, etc.). Disease causation is in fact the ultimate goal of much biomedical research, and our recognitition of ALL the driving causes of a particular disease - and the ways in which these causes inter-relate with each other and with effected structures to cause a change in normal function is a critical representational task BIRNlex will increasingly take on to provide an evolving, nuanced functional reconstruction of disease as a process and an outcome. These relations will be represented using OWL ObjectProperties. Function is the most sensible context to drive the asserted subsumptive hierarchy for representing nervous system disease, since it is with the clinical description of altered, impaired, decreased, or lost function that the diagnosis - and the research - of disease is rooted. Much has already been described regarding both the effected biomaterial entities and the causes of disease. However, it is because understanding of such relations still is far from comprehensive, that biomedical investigation into nervous system disease continues. Finally, given the "realist" ontology design approach being used to construct BIRNLex, function must be represented as inhering in some biomaterial entity from molecules and their controlling elements on up through gross anatomical structures. Over time, BIRNLex will provide the required relations to depict these functionally-related structures for both the normal and pathological function of the nervous system. This will be true both for the causes and for the outcomes of nervous system disease. Initial work to extend this expressive representation will focus on the neurodegenerative diseases being studied by …
created date: 2007-11-18
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated
scope note: Diseases whose constellation of symptoms occurs across multiple body systems.

Usher syndrome type I
type: Class
synonym: Usher syndrome type 1
synonym: Usher's syndrome type 1
subclass of: Usher Syndrome
created date: 2007-11-18
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: UMLS
mesh uid: D052245
umls cui: C0339533
umls cui: C1568247

Usher syndrome type II
type: Class
synonym: Usher syndrome type 2
synonym: Usher's syndrome type II
subclass of: Usher Syndrome
created date: 2007-11-18
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: UMLS defSource
has external source: UMLS
mesh uid: D052245
umls cui: C0339534
umls cui: C1568249

Usher syndrome type III
type: Class
synonym: Usher syndrome type 3
synonym: Usher's syndrome type III
subclass of: Usher Syndrome
created date: 2007-11-18
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: UMLS defSource
has external source: UMLS
mesh uid: D052245
umls cui: C1568248

Kearns-Sayer Syndrome
type: Class
synonym: Kearn-Sayre Mitochondrial Cytopathy
synonym: Kearns Syndrome
synonym: Kearns-Sayre-Shy-Daroff Syndrome
synonym: Mitochondrial ocular myopathy
synonym: Pigmentary degeneration of the retina plus heart block syndrome
definition: A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy ( CARDIOMYOPATHIES) with conduction block ( HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy.
subclass of: Multisystem disease
created date: 2007-11-18
modified date: 2007-11-18
acronym: KSS
defining citation: Adams et al., Principles of Neurology, 6th ed, p984
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: UMLS defSource
has external source: UMLS
mesh uid: D007625
umls cui: C0022541

Retinoschisis
type: Class
synonym: Retinoschisis disorder
synonym: Schisis of retina
definition: A vitreoretinal dystrophy characterized by splitting of the neuroretinal layers. It occurs in two forms: degenerative retinoschisis and X chromosome-linked juvenile retinoschisis.
subclass of: Retinal degeneration
created date: 2007-11-18
modified date: 2007-11-18
acronym: RS
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: UMLS
mesh uid: D041441
putative class extension: Breaks in retinoschisis
putative class extension: Bullous retinoschisis
putative class extension: Diffuse peripheral retinoschisis
putative class extension: Flat retinoschisis
putative class extension: Macular and peripheral retinoschisis
putative class extension: Macular retinoschisis
putative class extension: Peripheral retinoschisis
putative class extension: Retinoschisis inner leaf break
putative class extension: Retinoschisis outer leaf break
putative class extension: Senile retinoschisis
umls cui: C0152439

X-Linked Retinoschisis
type: Class
synonym: Juvenile retinoschisis
synonym: Retinoschisis disorder
definition: X chromosome recessive disorder, found nearly exclusively in males and becoming apparent around puberty. Characterized initially by a cystlike structure involving the FOVEA CENTRALIS, a peripheral retinoschisis occurs in about half the patients.
subclass of: Congenital retinoschisis
created date: 2007-11-18
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: UMLS
mesh uid: D041441
umls cui: C0271091

Congenital retinoschisis
type: Class
synonym: Congenital retinoschisis disorder
subclass of: Retinoschisis
created date: 2007-11-18
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated
has external source: UMLS
umls cui: C0344551

Degenerative Retinoschis
type: Class
definition: Splitting of the RETINA into two layers at the level of the outer plexiform layer, beginning as a cystic degeneration in the extreme retinal periphery. It usually occurs after 40 years of age and is generally not progressive.
subclass of: Retinoschisis
created date: 2007-11-18
modified date: 2007-11-18
has birnlex curator: Bill Bug
has curation status: uncurated
has definition source: MeSH defSource
has external source: UMLS
umls cui: C1137478

Neuronal Ceroid Lipofuscinosis
type: Class
synonym: Batten
synonym: Batten Disease
synonym: Batten's Disease
synonym: Batten-Mayou Disease
synonym: Batten-Spielmeyer-Vogt Disease
synonym: Battens Disease
synonym: Spielmeyer-Vogt Disease
definition: * A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials ( CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure (MeSH). * Batten disease is a fatal, inherited disorder of the nervous system that begins in childhood. In some cases, the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Symptoms of Batten disease are linked to a buildup of substances called lipopigments in the body's tissues. Lipopigments are made up of fats and proteins. Because vision loss is often an early sign, Batten disease may be first suspected during an eye exam. Often, an eye specialist or other physician may refer the child to a neurologist. Diagnostic tests for Batten disease include blood or urine tests, skin or tissue sampling, an electroencephalogram (EEG), electrical studies of the eyes, and brain scans (NINDS Disease page).
subclass of: Neurodegenerative disease
created date: 2008-01-18
modified date: April 27, 2010
birnlex definition: * A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials ( CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure (MeSH). * Batten disease is a fatal, inherited disorder of the nervous system that begins in childhood. In some cases, the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Symptoms of Batten disease are linked to a buildup of substances called lipopigments in the body's tissues. Lipopigments are made up of fats and proteins. Because vision loss is often an early sign, Batten disease may be first suspected during an eye exam. Often, an eye specialist or other physician may refer the child to a neurologist. Diagnostic tests for Batten disease include blood or urine tests, skin or tissue sampling, an electroencephalogram (EEG), electrical studies of the eyes, and brain scans (NINDS Disease page).
defining citation URI: http://www.ninds.nih.gov/disorders/batten/batten.htm
has birnlex curator: Bill Bug
has definition source: UMLS defSource
mesh uid: D009472
putative class extension: Adult Neuronal Ceroid Lipofuscinosis
putative class extension: Jansky-Bielschowsky Disease
putative class extension: Juvenile Cerebroretinal Degeneration
putative class extension: Kufs Disease
putative class extension: Santavuori-Haltia Disease
umls cui: C0751383
usage note: MeSH includes several implied subtypes based primarily on causation
usage note: The MeSH term includes implied subtypes related to developmental stage at time of diagnosis: Infantile Neuronal Ceroid Lipofuscinosis, Late-Infantile Neuronal Ceroid Lipofuscinosis, Juvenile Neuronal Ceroid Lipofuscinosis, and Adult Neuronal Ceroid Lipofuscinosis

Traumatic brain injury
type: Class
synonym: intracranial injury
synonym: TBI
synonym: tbi
description: Traumatic brain injury (TBI), also known as intracranial injury, occurs when an external force traumatically injures the brain. TBI can be classified based on severity, mechanism (closed or penetrating head injury), or other features (e.g. occurring in a specific location or over a widespread area). Head injury usually refers to TBI, but is a broader category because it can involve damage to structures other than the brain, such as the scalp and skull. (Wikipedia)
subclass of: Craniocerebral Trauma
version info: 174637
created date: May 17, 2012
mesh uid: D001930

Neuropathy
type: Class
description: Medical term referring to disorders of the nerves of the peripheral nervous system (specifically excluding encephalopathy and myelopathy, which pertain to the central nervous system.) It is usually considered equivalent to peripheral neuropathy, which is defined as deranged function and structure of peripheral motor, sensory, and autonomic neurons, involving either the entire neuron or selected levels. According to some sources, a disorder of the cranial nerves can be considered a neuropathy. - adapted from Wikipedia
subclass of: Nervous system disease
created date: August 20, 2012
contributor: Maryann Martone

Giant axonal neuropathy
type: Class
abbrev: GAN
description: A progressive hereditary disease that affects the peripheral and central nervous systems. It is characterized morphologically by aggregates of intermediate filaments in different tissues. Mutations have been reported in the gene that codes for gigaxonin. Morphologically, GAN is characterized by the presence of giant axons filled with densely packed accumulations of neurofilaments (NF). Affected axons have a thin myelin sheath, do not transmit signals properly, and eventually perish. Unique to GAN is that in addition to the inclusions in neurons, astrocytes can be filled with glial filament bodies, fibroblasts with vimentin clusters and muscle fibers with desmin accumulations.
subclass of: Neuropathy
created date: August 20, 2012
contributor: Maryann Martone
defining citation: Mussche S et al. (2012) Proteomic analysis in giant axonal neuropathy: new insights into disease mechanisms. Muscle Nerve 46: 246-56
umls ID: C1850386

Pick's Disease
type: Class
synonym: Picks Disease
subclass of: Neurodegenerative disease
created date: August 11, 2009
contributor: Jane Bugea

Neuronal intranuclear hyaline inclusion disease
type: Class
synonym: intranuclear inclusion body disease
synonym: neuronal intranuclear inclusion disease
abbrev: NIHID
definition: Neuronal intranuclear hyaline inclusion disease is a rare neurodegenerative disease characterized pathologically by the presence of eosinophilic intranuclear inclusions in neuronal cells
subclass of: Neurodegenerative disease
created date: February 17, 2010
contributor: Maryann Martone

Tic disorder
type: Class
definition: Tic disorders are defined in the Diagnostic and Statistical Manual of Mental Disorders (DSM) based on type (motor or phonic) and duration of tics (sudden, rapid, nonrhythmic, stereotyped, involuntary movements). Tic disorders are defined similarly by the World Health Organization (ICD-10 codes).\\n\\nDSM-IV-TR diagnosis codes for the tic disorders are:\\n\\n307.20 Tic Disorder NOS (Not Otherwise Specified)\\n\\n307.21 Transient Tic Disorder\\n\\n307.22 Chronic Motor or Vocal Tic Disorder\\n\\n307.23 Tourette's Disorder\\n\\n\\nICD10 diagnosis codes are:\\n\\nF95.0 Transient tic disorder\\n\\nF95.1 Chronic motor or vocal tic disorder\\n\\nF95.2 Combined vocal and multiple motor tic disorder (de la Tourette)\\n\\nF95.8 Other tic disorders\\n\\nF95.9 Tic disorder, unspecified, Tic disorders are defined in the Diagnostic and Statistical Manual of Mental Disorders (DSM) based on type (motor or phonic) and duration of tics (sudden, rapid, nonrhythmic, stereotyped, involuntary movements). Tic disorders are defined similarly by the World Health Organization (ICD-10 codes).\\\\n\\\\nDSM-IV-TR diagnosis codes for the tic disorders are:\\\\n\\\\n307.20 Tic Disorder NOS (Not Otherwise Specified)\\\\n\\\\n307.21 Transient Tic Disorder\\\\n\\\\n307.22 Chronic Motor or Vocal Tic Disorder\\\\n\\\\n307.23 Tourette's Disorder\\\\n\\\\n\\\\nICD10 diagnosis codes are:\\\\n\\\\nF95.0 Transient tic disorder\\\\n\\\\nF95.1 Chronic motor or vocal tic disorder\\\\n\\\\nF95.2 Combined vocal and multiple motor tic disorder (de la Tourette)\\\\n\\\\nF95.8 Other tic disorders\\\\n\\\\nF95.9 Tic disorder, unspecified, Tic disorders are defined in the Diagnostic and Statistical Manual of Mental Disorders (DSM) based on type (motor or phonic) and duration of tics (sudden, rapid, nonrhythmic, stereotyped, involuntary movements). Tic disorders are defined similarly by the World Health Organization (ICD-10 codes).\n\nDSM-IV-TR diagnosis codes for the tic disorders are:\n\n307.20 Tic Disorder NOS (Not…
subclass of: Mental Disorder
created date: March 19, 2010
defining citation: American Psychiatric Association (2000). "Diagnostic criteria for tic disorders". Diagnostic and Statistical Manual of Mental Disorders, 4th ed., text revision (DSM-IV-TR), ISBN 0890420254. Retrieved on July 22, 2008.

Chronic Tic Disorder
type: Class
definition: Chronic tic disorder is either single or multiple motor or phonic tics, but not both, which are present for more than a year.
subclass of: Tic disorder
created date: March 19, 2010
defining citation: Evidente VG. "Is it a tic or Tourette's? Clues for differentiating simple from more complex tic disorders". Postgraduate medicine108 (5): 175-6, 179-82. PMID 11043089 Retrieved on 2007-05-24

Tourette's Disorder
type: Class
synonym: Gilles de la Tourette syndrome
synonym: Tourette Disorder
synonym: Tourette syndrome
synonym: Tourette's Syndrome
synonym: Tourettes Disorder
synonym: TS
definition: Both multiple motor and one or more vocal tics have been present at some time during the illness. A tic is a sudden rapid recurrent, non rhythmic, stereotyped motor movement or vocalization.\n\nTourette syndrome (TS) is a neurological disorder characterized by repetitive, stereotyped, involuntary movements and vocalizations called tics. The disorder is named for Dr. Georges Gilles de la Tourette, the pioneering French neurologist who in 1885 first described the condition in an 86-year-old French noblewoman., Both multiple motor and one or more vocal tics have been present at some time during the illness. A tic is a sudden rapid recurrent, non rhythmic, stereotyped motor movement or vocalization.\\\\n\\\\nTourette syndrome (TS) is a neurological disorder characterized by repetitive, stereotyped, involuntary movements and vocalizations called tics. The disorder is named for Dr. Georges Gilles de la Tourette, the pioneering French neurologist who in 1885 first described the condition in an 86-year-old French noblewoman., Both multiple motor and one or more vocal tics have been present at some time during the illness. A tic is a sudden rapid recurrent, non rhythmic, stereotyped motor movement or vocalization.\\n\\nTourette syndrome (TS) is a neurological disorder characterized by repetitive, stereotyped, involuntary movements and vocalizations called tics. The disorder is named for Dr. Georges Gilles de la Tourette, the pioneering French neurologist who in 1885 first described the condition in an 86-year-old French noblewoman.
subclass of: Tic disorder
created date: March 19, 2010
defining citation: Diagnostic and Statistical Manual of Mental Disorders. 4th ed.
defining citation URI: http://medical-dictionary.thefreedictionary.com/Tourette+syndrome

Transient Tic Disorder
type: Class
definition: Transient tic disorder consists of multiple motor and/or phonic tics with duration of at least 4 weeks, but less than 12 months.
subclass of: Tic disorder
created date: March 19, 2010
defining citation: Evidente VG. "Is it a tic or Tourette's? Clues for differentiating simple from more complex tic disorders". Postgraduate medicine108 (5): 175-6, 179-82. PMID 11043089 Retrieved on 2007-05-24

Charcot Marie Tooth disease
type: Class
synonym: hereditary motor and sensory neuropathy
synonym: peroneal muscular atrophy
abbrev: CMT
abbrev: HMSN
definition: A common inherited neurological disorders, affecting approximately 1 in 2,500 people in the United States, comprising a group of disorders caused by mutations in genes that affect the normal function of the peripheral nerves. A typical feature includes weakness of the foot and lower leg muscles, which may result in foot drop and a high-stepped gait with frequent tripping or falls. Foot deformities, such as high arches and hammertoes (a condition in which the middle joint of a toe bends upwards), are also characteristic due to weakness of the small muscles in the feet. In addition, the lower legs may take on an "inverted champagne bottle" appearance due to the loss of muscle bulk. Later in the disease, weakness and muscle atrophy may occur in the hands, resulting in difficulty with fine motor skills. (adapted from NINDS disease pages)
subclass of: Nervous system disease
created date: March 17, 2010
defining citation URI: http://www.ninds.nih.gov/disorders/charcot_marie_tooth/charcot_marie_tooth.htm

Kennedy Syndrome
type: Class
synonym: Bulbospinal Neuronopathy
synonym: Progressive Myelopathic Muscular Atrophy
definition: Kennedy's disease is an inherited motor neuron disease that affects males. It is one of a group of disorders called spinal muscular atrophy (SMA). Onset of the disease is usually between the ages of 20 and 40, although it has been diagnosed in men from their teens to their 70s. Early symptoms include tremor of the outstretched hands, muscle cramps with exertion, and fasciculations (fleeting muscle twitches visible under the skin). Eventually, individuals develop limb weakness which usually begins in the pelvic or shoulder regions. Weakness of the facial and tongue muscles may occur later in the course of the disease and often leads to dysphagia (difficulty in swallowing), dysarthria (slurring of speech), and recurrent aspiration pneumonia. Some individuals develop gynecomastia (excessive enlargement of male breasts) and low sperm count or infertility. Still others develop non-insulin-dependent diabetes mellitus. Kennedy's disease is an x-linked recessive disease, which means the patient's mother carries the defective gene on one of her X chromosomes. Daughters of patients with Kennedy's disease are also carriers and have a 1 in 2 chance of having a son affected with the disease. Parents with concerns about their children may wish to talk to a genetic counselor. (http://www.ninds.nih.gov/disorders/kennedys/kennedys.htm)
subclass of: Spinal muscular atrophy
version info: 140443
created date: March 3, 2011
modified date: March 3, 2011

Type IV Spinal Muscular Atrophy
type: Class
synonym: Finkey late-adult type SMA
synonym: late-onset Finkel-type spinal muscular atrophy
definition: Adult onset spinal muscular atrophy due to autosomal dominant mutation in the vesicle-associated membrane protein-associated protein B gene (VAPB, {605704.0001} (adapted from OMIM)
subclass of: Spinal muscular atrophy
version info: 141143
created date: March 3, 2011
modified date: March 3, 2011

Eating disorder
type: Class
synonym: Eating related disorder
synonym: Eating-related disorder
definition: A type of disorder involving the results of eating behavior, e.g., eating too much or eating too little.
subclass of: Disease
comment: This can be considered a proxy class for conditions like obesity which really are more qualities than diseases; but until the correct classification is in place, we will use it because it is useful. (Maryann Martone, February, 2009)
created date: March 18, 2009
example: Obesity

Obesity
type: Class
definition: An eating-related disorder in which excess body fat has accumulated to such an extent that health may be negatively affected. It is commonly defined as a body mass index (weight divided by height squared) of 30 kg/m2 or higher.
subclass of: Eating disorder
created date: March 18, 2009
has definition source: Obesity

Morbid obesity
type: Class
synonym: Obesity
definition: Extreme form of obesity where body bass index is 40 or more, which is roughly equivalent to 100 pounds or more over ideal body weight.
subclass of: Obesity
created date: March 18, 2009
modified date: April 8, 2010

Mental retardation disorder
type: Class
definition: According to the latest edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV), there are three criteria before a person is considered to have a mental retardation: an IQ below 70, significant limitations in two or more areas of adaptive behavior (as measured by an adaptive behavior rating scale, i.e. communication, self-help skills, interpersonal skills, and more), and evidence that the limitations became apparent before the age of 18.
subclass of: Nervous system disease
created date: May 14, 2009
contributor: Maryann Martone

Downs syndrome
type: Class
synonym: Down syndrome
synonym: Down's syndrome
synonym: Trisomy 21
definition: A disorder caused by the presence of all or part of an extra 21st chromosome, characterized by structural abnormalities throughout the body. Often Down syndrome is associated with some impairment of cognitive ability and physical growth as well as facial appearance. (Adapted from Wikipedia)
subclass of: Mental retardation disorder
created date: May 14, 2009
contributor: Maryann Martone

Fragile X syndrome
type: Class
synonym: Escalante's syndrome
synonym: FRAXA syndrome
synonym: Marker X syndrome
synonym: Martin-Bell syndrome
definition: Fragile X syndrome is an X linked inherited form of mental impairment. The syndrome occurs in approximately 1 in 3600 males and 1 in 4000 to 6000 females. The majority of males with fragile X syndrome will have a significant intellectual disability. The spectrum ranges from learning disabilities to severe mental retardation and autism. In addition, males have a variety of physical and behavioral characteristics, including enlarged ears, long face with prominent chin, and large testicles (in post pubertal males). Connective tissue problems may include ear infections, mitral valve prolapse, flat feet, double-jointed fingers, hyperflexible joints and a variety of skeletal problems. Behavioral characteristics in males include attention deficit disorders, speech disturbances, hand biting, hand flapping, autistic behaviors, poor eye contact, and unusual responses to various touch, auditory or visual stimuli. The characteristics seen in males can also be seen in females, though females often have milder intellectual disability and a milder presentation of the behavioral or physical features. (from http://www.fragilex.org/)
subclass of: Mental retardation disorder
created date: June 20, 2009
contributor: Maryann Martone

Fetal alcohol syndrome
type: Class
synonym: FAS
definition: A condition occurring in FETUS or NEWBORN due to in utero ETHANOL exposure when mother consumed alcohol during PREGNANCY. It is characterized by a cluster of irreversible BIRTH DEFECTS including abnormalities in physical, mental, and behavior development (such as FETAL GROWTH RETARDATION; MENTAL RETARDATION; ATTENTION DEFICIT AND DISRUPTIVE BEHAVIOR DISORDERS) with varied degree of severity in an individual.(MeSH)
subclass of: Disease
created date: June 21, 2009
contributor: Maryann Martone
mesh uid: D005310