58501004: Cerebellar vermis structure (body structure)

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

\Anatomical structure which has as its parts a heterogeneous collection of organs, organ parts, cells, cell parts or body part subdivisions that are adjacent to, or continuous with one another; does not constitute a cell part, cell, tissue, organ, or body part subdivision.\Structure of anatomical compartment (body structure)\Intracranial structure (body structure)\Brain structure\Brain part\...

\Brain region\Infratentorial brain structure\Infratentorial brain part (body structure)\Cerebellar structure\Cerebellar part\Cerebellar vermis and posterior lobes structure\Cerebellar vermis structure

\Extrapyramidal system structure (body structure)\Cerebellar structure\Cerebellar part\Cerebellar vermis and posterior lobes structure\Cerebellar vermis structure

\Body region structure\Body part structure\Upper body structure\Upper body part structure\Structure of head and/or neck (body structure)\Head structure\Head part\Intracranial structure (body structure)\Brain structure\Brain part\...

\Brain region\Infratentorial brain structure\Infratentorial brain part (body structure)\Cerebellar structure\Cerebellar part\Cerebellar vermis and posterior lobes structure\Cerebellar vermis structure

\Extrapyramidal system structure (body structure)\Cerebellar structure\Cerebellar part\Cerebellar vermis and posterior lobes structure\Cerebellar vermis 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
Cerebellar vermis structure	Is a	Cerebellar vermis and posterior lobes structure	true	Inferred relationship	Some
Cerebellar vermis structure	partie de	Entire cerebellar vermis and posterior lobes	false	Additional relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Entire cerebellar vermis	Is a	True	Cerebellar vermis structure	Inferred relationship	Some
Superior vermis structure	Is a	True	Cerebellar vermis structure	Inferred relationship	Some
Inferior vermis structure	Is a	True	Cerebellar vermis structure	Inferred relationship	Some
Nodulus cerebelli	Is a	False	Cerebellar vermis structure	Inferred relationship	Some
Paleocerebellar structure	Is a	True	Cerebellar vermis structure	Inferred relationship	Some
Structure of cerebellar declive (body structure)	Is a	False	Cerebellar vermis structure	Inferred relationship	Some
Lingula of cerebellum	Is a	False	Cerebellar vermis structure	Inferred relationship	Some
Cerebellar folium vermis	Is a	False	Cerebellar vermis structure	Inferred relationship	Some
Cerebellar pyramis	Is a	True	Cerebellar vermis structure	Inferred relationship	Some
Cerebellar tuber	Is a	False	Cerebellar vermis structure	Inferred relationship	Some
Aplasia of the vermis	Finding site	True	Cerebellar vermis structure	Inferred relationship	Some	1
Familial aplasia of the vermis	Finding site	False	Cerebellar vermis structure	Inferred relationship	Some	2
A rare genetic developmental and neurological disorder characterised by the association of partial bilateral aniridia (or iris hypoplasia), with non-progressive cerebellar ataxia, intellectual disability, and congenital hypotonia.	Finding site	False	Cerebellar vermis structure	Inferred relationship	Some	2
Absence of the vermis	Finding site	False	Cerebellar vermis structure	Inferred relationship	Some	1
Dandy-Walker syndrome	Finding site	True	Cerebellar vermis structure	Inferred relationship	Some	1
Dandy-Walker syndrome with spina bifida	Finding site	True	Cerebellar vermis structure	Inferred relationship	Some	1
Absence of the vermis	Finding site	False	Cerebellar vermis structure	Inferred relationship	Some	1
Dandy-Walker syndrome	Finding site	True	Cerebellar vermis structure	Inferred relationship	Some	3
Absence of the vermis	Finding site	True	Cerebellar vermis structure	Inferred relationship	Some	1
Aplasia of the vermis	Finding site	False	Cerebellar vermis structure	Inferred relationship	Some	1
Dandy-Walker syndrome with spina bifida	Finding site	True	Cerebellar vermis structure	Inferred relationship	Some	3
Familial aplasia of the vermis	Finding site	False	Cerebellar vermis structure	Inferred relationship	Some	1
Familial aplasia of the vermis	Finding site	True	Cerebellar vermis structure	Inferred relationship	Some	1
Aplasia of the vermis	Finding site	False	Cerebellar vermis structure	Inferred relationship	Some	1
Rhombencephalosynapsis	Finding site	False	Cerebellar vermis structure	Inferred relationship	Some	1
Rhombencephalosynapsis	Finding site	True	Cerebellar vermis structure	Inferred relationship	Some	1
Dandy-Walker syndrome	Finding site	False	Cerebellar vermis structure	Inferred relationship	Some	5
Dandy-Walker syndrome with spina bifida	Finding site	False	Cerebellar vermis structure	Inferred relationship	Some	5
Familial aplasia of the vermis	Finding site	False	Cerebellar vermis structure	Inferred relationship	Some	2
Aplasia of the vermis	Finding site	False	Cerebellar vermis structure	Inferred relationship	Some	2
Rhombencephalosynapsis	Finding site	False	Cerebellar vermis structure	Inferred relationship	Some	2
A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.	Finding site	True	Cerebellar vermis structure	Inferred relationship	Some	1
Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with retinal dystrophy.	Finding site	False	Cerebellar vermis structure	Inferred relationship	Some	2
Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.	Finding site	False	Cerebellar vermis structure	Inferred relationship	Some	2
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.	Finding site	False	Cerebellar vermis structure	Inferred relationship	Some	9
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.	Finding site	False	Cerebellar vermis structure	Inferred relationship	Some	14
A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.	Finding site	False	Cerebellar vermis structure	Inferred relationship	Some	8
A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.	Finding site	False	Cerebellar vermis structure	Inferred relationship	Some	7
A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay.	Finding site	False	Cerebellar vermis structure	Inferred relationship	Some	8
A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay.	Finding site	False	Cerebellar vermis structure	Inferred relationship	Some	9
Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).	Finding site	False	Cerebellar vermis structure	Inferred relationship	Some	2
A rare subtype of Joubert syndrome (JS) and related disorders (JSRD) characterised by the neurological features of JS associated with both renal and ocular disease.	Finding site	True	Cerebellar vermis structure	Inferred relationship	Some	3
A rare subtype of Joubert syndrome (JS) and related disorders (JSRD) characterised by the neurological features of JS associated with both renal and ocular disease.	Finding site	False	Cerebellar vermis structure	Inferred relationship	Some	4
Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.	Finding site	False	Cerebellar vermis structure	Inferred relationship	Some	8
A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993.	Finding site	False	Cerebellar vermis structure	Inferred relationship	Some	9
A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993.	Finding site	False	Cerebellar vermis structure	Inferred relationship	Some	10
A rare neurocutaneous syndrome characterized by the association of cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia) abnormalities. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behavior and bipolar disorder have also been reported.	Finding site	False	Cerebellar vermis structure	Inferred relationship	Some	4
A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs.	Finding site	False	Cerebellar vermis structure	Inferred relationship	Some	6
A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs.	Finding site	False	Cerebellar vermis structure	Inferred relationship	Some	5
A rare genetic developmental defect during embryogenesis characterized by the association of the classic features of Joubert syndrome (congenital midbrain-hindbrain malformations causing hypotonia, abnormal breathing and eye movements, ataxia and cognitive impairment) together with the skeletal anomalies of Jeune asphyxiating thoracic dystrophy (short ribs, long and narrow thorax causing respiratory failure, short-limbs, short stature, and polydactyly). Additional variable manifestations include cystic kidneys, liver fibrosis, and retinal dystrophy.	Finding site	False	Cerebellar vermis structure	Inferred relationship	Some	6
A syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.	Finding site	False	Cerebellar vermis structure	Inferred relationship	Some	8
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989.	Finding site	False	Cerebellar vermis structure	Inferred relationship	Some	12
A syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.	Finding site	False	Cerebellar vermis structure	Inferred relationship	Some	5
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989.	Finding site	False	Cerebellar vermis structure	Inferred relationship	Some	9
Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterised by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed.	Finding site	False	Cerebellar vermis structure	Inferred relationship	Some	3
Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterised by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed.	Finding site	True	Cerebellar vermis structure	Inferred relationship	Some	2
Isolated cerebellar vermis hypoplasia is a rare, non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms.	Finding site	True	Cerebellar vermis structure	Inferred relationship	Some	1
X-linked cerebral-cerebellar-coloboma syndrome is a rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures.	Finding site	True	Cerebellar vermis structure	Inferred relationship	Some	3
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.	Finding site	True	Cerebellar vermis structure	Inferred relationship	Some	6
Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with retinal dystrophy.	Finding site	True	Cerebellar vermis structure	Inferred relationship	Some	1
A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.	Finding site	True	Cerebellar vermis structure	Inferred relationship	Some	4
Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).	Finding site	True	Cerebellar vermis structure	Inferred relationship	Some	1
A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay.	Finding site	True	Cerebellar vermis structure	Inferred relationship	Some	5
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989.	Finding site	True	Cerebellar vermis structure	Inferred relationship	Some	5
A rare genetic developmental defect during embryogenesis characterized by the association of the classic features of Joubert syndrome (congenital midbrain-hindbrain malformations causing hypotonia, abnormal breathing and eye movements, ataxia and cognitive impairment) together with the skeletal anomalies of Jeune asphyxiating thoracic dystrophy (short ribs, long and narrow thorax causing respiratory failure, short-limbs, short stature, and polydactyly). Additional variable manifestations include cystic kidneys, liver fibrosis, and retinal dystrophy.	Finding site	True	Cerebellar vermis structure	Inferred relationship	Some	2
A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993.	Finding site	True	Cerebellar vermis structure	Inferred relationship	Some	4
A syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.	Finding site	True	Cerebellar vermis structure	Inferred relationship	Some	3
Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.	Finding site	True	Cerebellar vermis structure	Inferred relationship	Some	1
A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs.	Finding site	True	Cerebellar vermis structure	Inferred relationship	Some	3
Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.	Finding site	True	Cerebellar vermis structure	Inferred relationship	Some	1
A rare neurocutaneous syndrome characterized by the association of cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia) abnormalities. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behavior and bipolar disorder have also been reported.	Finding site	True	Cerebellar vermis structure	Inferred relationship	Some	2
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome is a rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.	Finding site	True	Cerebellar vermis structure	Inferred relationship	Some	1
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.	Finding site	True	Cerebellar vermis structure	Inferred relationship	Some	5
A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay.	Finding site	True	Cerebellar vermis structure	Inferred relationship	Some	4
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989.	Finding site	True	Cerebellar vermis structure	Inferred relationship	Some	4
A syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.	Finding site	True	Cerebellar vermis structure	Inferred relationship	Some	2
A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.	Finding site	True	Cerebellar vermis structure	Inferred relationship	Some	3
A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993.	Finding site	True	Cerebellar vermis structure	Inferred relationship	Some	3
A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs.	Finding site	True	Cerebellar vermis structure	Inferred relationship	Some	2
A rare, genetic, central nervous system malformation syndrome characterized by congenital, progressive microcephaly, neonatal to infancy-onset of severe, intractable seizures, and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy, associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes, variable dysmorphic facial features, ophthalmological signs (cortical visual impairment, nystagmus, eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated.	Finding site	True	Cerebellar vermis structure	Inferred relationship	Some	2
A rare, congenital, cerebellar malformation disorder characterised by complete or partial cerebellar vermis agenesis, with no other associated malformations or anomalies. Patients may be asymptomatic, although psychomotor delay, hypotonia and incoordination are usually associated. Additional variable manifestations include intellectual disability, oculomotor abnormalities (such as nystagmus, impaired smooth pursuit, impaired saccades, strabismus, ptosis, and oculomotor apraxia), retinopathy, abnormal visual evoked potentials, ataxia, episodic hyperpnoea, and delayed gait acquisition, as well as delayed speech and language development.	Finding site	True	Cerebellar vermis structure	Inferred relationship	Some	1
Atrophy of cerebellar vermis	Finding site	True	Cerebellar vermis structure	Inferred relationship	Some	1

Reference Sets

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

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Id	Description	Lang	Type	Status	Case?	Module
97217015	Cerebellar vermis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
498178012	Cerebellar vermis structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
797241010	Cerebellar vermis structure (body structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5646981000241114	structure du vermis cérébelleux	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5646991000241111	vermis cérébelleux	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5683671000241118	vermis cérebelleux	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module