21483005: Structure of central nervous system (body structure)

SNOMED CT Concept\Body structure (body structure)\Anatomical or acquired body structure (body structure)\Anatomical structure\Body system structure\...

\Structure of subdivision of organ system (body structure)\Structure of subdivision of nervous system (body structure)\Structure of central nervous system (body structure)

\Structure of nervous system (body structure)\Structure of subdivision of nervous system (body structure)\Structure of central nervous system (body structure)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Structure of central nervous system (body structure)	Is a	Entire subdivision of nervous system (body structure)	false	Inferred relationship	Some
Structure of central nervous system (body structure)	partie de	Entire nervous system	false	Additional relationship	Some
Structure of central nervous system (body structure)	Is a	Structure of nervous system (body structure)	false	Inferred relationship	Some
Structure of central nervous system (body structure)	Is a	Structure of subdivision of nervous system (body structure)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Coccidioides infection of the central nervous system (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	1
Computed tomography of central nervous system for radiotherapy planning (procedure)	Procedure site - Direct (attribute)	True	Structure of central nervous system (body structure)	Inferred relationship	Some	2
Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterized by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and fetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia.	Finding site	False	Structure of central nervous system (body structure)	Inferred relationship	Some	2
A rare syndromic form of lissencephaly characterized by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. The syndrome may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and fetal akinesia sequence.	Finding site	False	Structure of central nervous system (body structure)	Inferred relationship	Some	6
Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.	Finding site	False	Structure of central nervous system (body structure)	Inferred relationship	Some	2
Acute nonparalytic poliomyelitis	Finding site	False	Structure of central nervous system (body structure)	Inferred relationship	Some	3
Acute paralytic poliomyelitis, bulbar	Finding site	False	Structure of central nervous system (body structure)	Inferred relationship	Some	3
poliomyélite aiguë avec paralysie sauf bulbaire	Finding site	False	Structure of central nervous system (body structure)	Inferred relationship	Some	3
Acute paralytic non-bulbar poliomyelitis	Finding site	False	Structure of central nervous system (body structure)	Inferred relationship	Some	3
Acute paralytic poliomyelitis, vaccine-associated	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	3
Acute paralytic poliomyelitis, wild virus, imported	Finding site	False	Structure of central nervous system (body structure)	Inferred relationship	Some	3
Acute paralytic poliomyelitis, wild virus, indigenous	Finding site	False	Structure of central nervous system (body structure)	Inferred relationship	Some	3
Abortive poliomyelitis	Finding site	False	Structure of central nervous system (body structure)	Inferred relationship	Some	3
Acute paralytic poliomyelitis	Finding site	False	Structure of central nervous system (body structure)	Inferred relationship	Some	3
paralysie infantile	Finding site	False	Structure of central nervous system (body structure)	Inferred relationship	Some	3
Acute poliomyelitis (disorder)	Finding site	False	Structure of central nervous system (body structure)	Inferred relationship	Some	3
poliomyélite aiguë épidémique	Finding site	False	Structure of central nervous system (body structure)	Inferred relationship	Some	3
poliomyélite antérieure aiguë	Finding site	False	Structure of central nervous system (body structure)	Inferred relationship	Some	3
Acute nonparalytic poliomyelitis caused by human poliovirus 1	Finding site	False	Structure of central nervous system (body structure)	Inferred relationship	Some	3
Acute bulbar poliomyelitis caused by Human poliovirus 2	Finding site	False	Structure of central nervous system (body structure)	Inferred relationship	Some	3
Acute poliomyelitis caused by Human poliovirus 1	Finding site	False	Structure of central nervous system (body structure)	Inferred relationship	Some	3
Acute bulbar poliomyelitis caused by Human poliovirus 1	Finding site	False	Structure of central nervous system (body structure)	Inferred relationship	Some	3
Acute paralytic poliomyelitis caused by Human poliovirus 1 (disorder)	Finding site	False	Structure of central nervous system (body structure)	Inferred relationship	Some	3
Acute paralytic poliomyelitis caused by Human poliovirus 2	Finding site	False	Structure of central nervous system (body structure)	Inferred relationship	Some	3
Acute paralytic poliomyelitis caused by Human poliovirus 3 (disorder)	Finding site	False	Structure of central nervous system (body structure)	Inferred relationship	Some	3
syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire	Finding site	False	Structure of central nervous system (body structure)	Inferred relationship	Some	5
Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay.	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	2
syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire	Finding site	False	Structure of central nervous system (body structure)	Inferred relationship	Some	4
Infection of central nervous system caused by Herpes simplex virus (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	1
A very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production.	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	2
Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy.	Finding site	False	Structure of central nervous system (body structure)	Inferred relationship	Some	6
Central nervous system complication of anesthesia during the puerperium (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	2
A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome.	Finding site	False	Structure of central nervous system (body structure)	Inferred relationship	Some	2
Injury of central nervous system due to birth trauma (disorder)	Finding site	False	Structure of central nervous system (body structure)	Inferred relationship	Some	2
A rare X-linked syndromic intellectual disability characterized by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features.	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	4
Increased cerebrospinal fluid production	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	1
Facial onset sensory and motor neuronopathy is characterised initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease.	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	1
Histoplasma infection of central nervous system (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	1
A rare, genetic, syndromic intellectual disability disorder characterized by the association of nonprogressive spastic quadriparesis, retinitis pigmentosa, intellectual disability, and variable deafness. There have been no further descriptions in the literature since 1976.	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	1
Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case.	Finding site	False	Structure of central nervous system (body structure)	Inferred relationship	Some	5
Malignant glioma of central nervous system	Finding site	False	Structure of central nervous system (body structure)	Inferred relationship	Some	2
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Finding site	False	Structure of central nervous system (body structure)	Inferred relationship	Some
syndrome de gigantisme cérébral-kystes maxillaires	Finding site	False	Structure of central nervous system (body structure)	Inferred relationship	Some	1
Glioma of central nervous system (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	1
Autonomic nervous system disorder co-occurrent and due to neurodegenerative disorder (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	3
Epilepsy co-occurrent and due to demyelinating disorder (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	4
Progressive relapsing multiple sclerosis (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	1
Demyelination of central nervous system co-occurrent and due to neurosarcoidosis (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	4
Demyelination of central nervous system co-occurrent and due to neurosarcoidosis (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	5
Demyelination of central nervous system co-occurrent and due to neurosarcoidosis (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	6
Demyelination of central nervous system due to Behcet disease (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	2
Demyelination of central nervous system co-occurrent and due to mitochondrial disease (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	2
Demyelination of central nervous system co-occurrent and due to systemic lupus erythematosus (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	4
Demyelination of central nervous system co-occurrent and due to Sjogren disease (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	5
A rare genetic neurological disorder characterized by early-onset progressive leukoencephalopathy, severe developmental delay, early-onset or congenital deafness (only few cases reported without hearing loss), and visual impairment. All patients manifest calcifications in brain and spinal cord. Cognitive impairment, seizures, hypotonia, spastic tetraplegia or quadriplegia are observed in the majority of the patients. Variable features may include microcephaly and anemia.	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	5
Functional hemiparesis (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	1
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992.	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	5
Superficial siderosis of central nervous system	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	1
A rare, genetic, inborn error of metabolism disorder characterized by neonatal-onset of developmental delay, hypotonia, hepatomegaly, lactic acidemia, increased creatine kinase levels, elevated alpha-ketoglutaric acid in urine, and a decreased plasma beta-hydroxybutyrate-to-acetoacetate ratio. Pyruvate dehydrogenase deficiency can be associated, leading to hypoglycemia and neurologic anomalies, including seizures.	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	1
An autosomal recessive form of serine deficiency. The juvenile disease has clinical characteristics in the few reported cases of absence seizures, moderate developmental delay and behavioral disorders.	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	1
A rare, genetic, renal disease characterized by the association of familial adult medullary cystic disease with spastic quadriparesis. There have been no further descriptions in the literature since 1990.	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	2
D-2(OH) glutaric aciduria	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	1
L-2(OH) glutaric aciduria	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	1
2-hydroxyglutaric aciduria	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	1
Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	1
Ganglioneuroblastoma of central nervous system (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	1
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	5
Embryonal neuroepithelial neoplasm of central nervous system (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	1
Diffuse large B-cell lymphoma of central nervous system (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	1
Neuroblastoma of central nervous system (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	1
Central nervous system cyst fluid specimen (specimen)	Specimen source topography	True	Structure of central nervous system (body structure)	Inferred relationship	Some	2
Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998.	Finding site	False	Structure of central nervous system (body structure)	Inferred relationship	Some	5
Pyridoxine-dependent epilepsy (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	5
Flaccid hemiplegia of left dominant side (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	1
Flaccid hemiplegia of left nondominant side (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	1
Flaccid hemiplegia of right dominant side (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	1
Flaccid hemiplegia of right nondominant side (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	1
Hemiplegia of left dominant side (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	1
Hemiplegia of left nondominant side (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	1
Hemiplegia of right dominant side (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	1
Hemiplegia of right nondominant side (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	1
Hemiplegia of nondominant side due to and following ischemic cerebrovascular accident (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	2
Hemiplegia of dominant side due to and following ischemic cerebrovascular accident (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	2
Hemiplegia of nondominant side due to and following embolic cerebrovascular accident (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	2
Spastic hemiplegia of left dominant side (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	1
Spastic hemiplegia of left nondominant side (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	1
Spastic hemiplegia of right dominant side (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	1
Spastic hemiplegia of right nondominant side (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	1
HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.	Finding site	False	Structure of central nervous system (body structure)	Inferred relationship	Some	1
Infection causing abscess of central nervous system (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	1
Infection of central nervous system caused by Echinococcus (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	1
Infection causing granuloma of central nervous system (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	1
Infection causing cyst of central nervous system (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	1
Fetal malformation of central nervous system	Finding site	False	Structure of central nervous system (body structure)	Inferred relationship	Some	3
Fetal malformation of central nervous system	Finding site	False	Structure of central nervous system (body structure)	Inferred relationship	Some	2
Disorder of central nervous system co-occurrent and due to infection with influenza virus (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	2
Demyelination due to systemic vasculitis (disorder)	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	2
A macroscopic waste clearance system that utilizes a unique system of perivascular channels, formed by astroglial cells, to promote efficient elimination of soluble proteins and metabolites from the central nervous system.	Is a	True	Structure of central nervous system (body structure)	Inferred relationship	Some
Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).	Finding site	False	Structure of central nervous system (body structure)	Inferred relationship	Some	3
Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but occurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported.	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	1
Oro-facial digital syndrome type 12	Finding site	True	Structure of central nervous system (body structure)	Inferred relationship	Some	5

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Anatomy structure and entire association reference set (foundation metadata concept)

Anatomy structure and part association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
36053015	Central nervous system	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
481035013	Central nervous system structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2638268018	Structure of central nervous system (body structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2642337010	Structure of central nervous system	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
278861000077111	structure du système nerveux central	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
959871000172115	systema nervosum centrale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1002691000172114	système nerveux central	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module