113305005: Cerebellar structure (body structure)

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

\Structure of anatomical cluster (body structure)\Structure of anatomical compartment (body structure)\Intracranial structure\Brain structure\Brain part\...

\Brain region\Infratentorial brain structure\Infratentorial brain part\Cerebellar structure (body structure)

\Extrapyramidal system structure\Cerebellar structure (body structure)

\Body organ structure\Brain and spinal cord structure (body structure)\Brain structure\Brain part\Brain region\Infratentorial brain structure\Infratentorial brain part\Cerebellar structure (body structure)
\Body organ structure\Brain and spinal cord structure (body structure)\Brain structure\Brain part\Extrapyramidal system structure\Cerebellar structure (body structure)
\Body organ structure\Organ part (body structure)\Brain part\Brain region\Infratentorial brain structure\Infratentorial brain part\Cerebellar structure (body structure)
\Body organ structure\Organ part (body structure)\Brain part\Extrapyramidal system structure\Cerebellar structure (body structure)

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

\Brain region\Infratentorial brain structure\Infratentorial brain part\Cerebellar structure (body structure)

\Extrapyramidal system structure\Cerebellar structure (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
Cerebellar structure (body structure)	Is a	Infratentorial brain structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Cerebellar structure (body structure)	Is a	Extrapyramidal system structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Cerebellar structure (body structure)	Is a	Hindbrain structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Cerebellar structure (body structure)	partie de	Entire infratentorial brain	false	Additional relationship (core metadata concept)	Existential restriction modifier (core metadata concept)
Cerebellar structure (body structure)	partie de	Entire extrapyramidal system (body structure)	false	Additional relationship (core metadata concept)	Existential restriction modifier (core metadata concept)
Cerebellar structure (body structure)	Is a	Infratentorial brain part	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Cerebellar structure (body structure)	Is a	Brain tissue structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Boucher Neuhäuser syndrome	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by cerebellar ataxia, tremor and cognitive impairment.	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Fryns macrocephaly	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Cerebellar liponeurocytoma	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare, autosomal recessive, congenital, cerebellar ataxia disorder characterized by hypotonia from birth, marked psychomotor delay and prominent cerebellar dysfunction (manifesting with nystagmus, intention tremor, dysarthria, ataxic gait and truncal ataxia), described in an isolated population of the Grand Cayman Island. Cerebellar hypoplasia, observed on CT scan, may be associated.	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital pontocerebellar hypoplasia type 7 (disorder)	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and severe cerebral cortical atrophy associated with pontocerebellar hypoplasia with the pons and cerebellum equally affected. Clinically the disorder manifests at birth with hypotonia, clonus, epilepsy, impaired swallowing and from infancy by progressive microcephaly, spasticity and lactic acidosis.	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital pontocerebellar hypoplasia type 5	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A rare, genetic form of pontocerebellar hypoplasia (PCH) characterised by neocortical and pontocerebellar hypoplasia with pons and cerebellum equally affected and that clinically manifests with neonatal hypotonia and impaired swallowing followed by seizures, optic atrophy and short stature from infancy onward. Movement disorders, as seen in other forms of PCH, are absent.	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A severe, genetic form of pontocerebellar hypoplasia (PCH) characterized by spinal cord anterior horn cell degeneration in addition to pontocerebellar hypoplasia. Clinically, patients manifest with a severe global development deficit that is evident early on from difficulties in feeding and swallowing.	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital pontocerebellar hypoplasia type 8 (disorder)	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital pontocerebellar hypoplasia type 7 (disorder)	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and severe cerebral cortical atrophy associated with pontocerebellar hypoplasia with the pons and cerebellum equally affected. Clinically the disorder manifests at birth with hypotonia, clonus, epilepsy, impaired swallowing and from infancy by progressive microcephaly, spasticity and lactic acidosis.	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital pontocerebellar hypoplasia type 5	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital pontocerebellar hypoplasia type 4 (disorder)	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
A rare, genetic form of pontocerebellar hypoplasia (PCH) characterised by neocortical and pontocerebellar hypoplasia with pons and cerebellum equally affected and that clinically manifests with neonatal hypotonia and impaired swallowing followed by seizures, optic atrophy and short stature from infancy onward. Movement disorders, as seen in other forms of PCH, are absent.	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
A severe, genetic form of pontocerebellar hypoplasia (PCH) characterized by spinal cord anterior horn cell degeneration in addition to pontocerebellar hypoplasia. Clinically, patients manifest with a severe global development deficit that is evident early on from difficulties in feeding and swallowing.	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital pontocerebellar hypoplasia type 8 (disorder)	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Episodic ataxia type 7 (disorder)	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Episodic ataxia type 6 (disorder)	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Episodic ataxia type 4 (disorder)	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Episodic ataxia type 3 (disorder)	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Episodic ataxia type 5 (EA5) is an extremely rare form of hereditary episodic ataxia characterised by recurrent episodes of vertigo and ataxia lasting several hours.	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
X-linked intellectual disability with ataxia and apraxia syndrome	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 39	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
X-linked intellectual disability with cerebellar hypoplasia syndrome	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spinocerebellar ataxia type 26	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spinocerebellar ataxia type 25 (disorder)	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by cerebellar dysarthria as the initial typical manifestation.	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spinocerebellar ataxia type 23 (disorder)	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spinocerebellar ataxia type 11 (disorder)	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spinocerebellar ataxia type 12 (disorder)	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spinocerebellar ataxia type 13 (disorder)	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spinocerebellar ataxia type 14	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Spinocerebellar ataxia type 17 (disorder)	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spinocerebellar ataxia type 18	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spinocerebellar ataxia type 19 (disorder)	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spinocerebellar ataxia type 27	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
An autosomal dominant cerebellar ataxia type III that is characterized by a slowly progressive and relatively pure ataxia.	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spinocerebellar ataxia type 32 (disorder)	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spinocerebellar ataxia type 35 (disorder)	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spinocerebellar ataxia type 37 (disorder)	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spinocerebellar ataxia type 5	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
X-linked spinocerebellar ataxia type 3	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
X-linked spinocerebellar ataxia type 4	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A rare genetic syndromic intellectual disability characterised by global developmental delay, intellectual disability, infantile or childhood onset of progressive ataxia, and bilateral sensorineural hearing impairment. Variable features include signs of upper and lower motor neuron disease, peripheral neuropathy, myopathic facies, lower limb muscle wasting, and heel contractures. There have been no further descriptions in the literature since 1993.	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Corneal cerebellar syndrome	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Hereditary sensory and autonomic neuropathy with spastic paraplegia	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	6
X-linked sideroblastic anaemia with spinocerebellar ataxia	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Diffuse injury of cerebellum (disorder)	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Traumatic hemorrhage of cerebellum due to birth trauma (disorder)	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Traumatic hemorrhage of cerebellum due to birth trauma (disorder)	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Focal non-hemorrhagic contusion of cerebellum (disorder)	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Focal traumatic hemorrhage of cerebellum (disorder)	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Focal traumatic hemorrhage of cerebellum (disorder)	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Multiple focal injuries of cerebellum	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Focal traumatic hematoma of cerebellum	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Focal traumatic hematoma of cerebellum	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Traumatic haemorrhage of cerebellum	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Traumatic haemorrhage of cerebellum	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Focal laceration of cerebellum (disorder)	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Contusion of cerebellum due to birth trauma (disorder)	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
X-linked spastic paraplegia type 2 (disorder)	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Non-progressive cerebellar ataxia with intellectual disability (disorder)	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal dominant spastic paraplegia type 36	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal dominant spastic paraplegia type 4 (disorder)	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal recessive spastic paraplegia type 44 (SPG44) is a very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein.	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal recessive spastic paraplegia type 46 (SPG46) is a rare, complex type of hereditary spastic paraplegia characterised by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase.	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal recessive spastic paraplegia type 53 (disorder)	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal recessive spastic paraplegia type 54 (disorder)	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal recessive spastic paraplegia type 57	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal recessive spastic paraplegia type 55 (disorder)	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal recessive posterior column ataxia and retinitis pigmentosa (disorder)	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Infantile onset spinocerebellar ataxia (disorder)	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder)	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Autosomal recessive cerebellar ataxia Beauce type (disorder)	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive ataxia due to ubiquinone deficiency (disorder)	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 (disorder)	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A disorder that is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
X-linked hereditary spastic paraplegia (disorder)	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	4
X-linked hereditary spastic paraplegia (disorder)	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Autosomal recessive spastic paraplegia type 32 (disorder)	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal recessive spastic paraplegia type 26 (disorder)	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal recessive spastic paraplegia type 23	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal recessive spastic paraplegia type 64 (disorder)	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal recessive spastic paraplegia type 63 (disorder)	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal recessive spastic paraplegia type 61	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Spastic paraplegia with Paget disease of bone syndrome	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Autosomal recessive spastic paraplegia type 18 (disorder)	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disc herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1.	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal dominant spastic paraplegia type 10 (disorder)	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal dominant spastic paraplegia type 6	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal dominant spastic paraplegia type 29	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Spinocerebellar ataxia dysmorphism syndrome	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Spastic paraplegia with precocious puberty syndrome	Finding site	False	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Myoclonus, cerebellar ataxia, deafness syndrome	Finding site	True	Cerebellar structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	4

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Reference Sets

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
187142017	Cerebellum	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
382977010	Cerebellar structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
648477018	Cerebellar structure (body structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
187142017	Cerebellum	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
187142017	Cerebellum	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
382977010	Cerebellar structure	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
382977010	Cerebellar structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
648477018	Cerebellar structure (body structure)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
648477018	Cerebellar structure (body structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
196921000077116	structure cérébelleuse	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
871751000172111	cervelet	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
955431000172118	cerebellum	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1008081000172119	structure du cervelet	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
196921000077116	structure cérébelleuse	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
871751000172111	cervelet	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
955431000172118	cerebellum	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1008081000172119	structure du cervelet	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module