49557009: Pontine 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)\Brainstem structure\Brain stem part\Midbrain and pons structure\Pontine 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)\Brainstem structure\Brain stem part\Midbrain and pons structure\Pontine 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
Pontine structure	Is a	Midbrain and pons structure	true	Inferred relationship	Some
Pontine structure	Is a	Hindbrain structure	false	Inferred relationship	Some
Pontine structure	partie de	Entire midbrain and pons	false	Additional relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Entire pons	Is a	True	Pontine structure	Inferred relationship	Some
Entire pontine nucleus (body structure)	Is a	False	Pontine structure	Inferred relationship	Some
Pons part	Is a	True	Pontine structure	Inferred relationship	Some
Pontine tract	Is a	False	Pontine structure	Inferred relationship	Some
Tegmental pons	Is a	False	Pontine structure	Inferred relationship	Some
Ventral pons	Is a	False	Pontine structure	Inferred relationship	Some
Structure of cerebellopontine angle (body structure)	Is a	False	Pontine structure	Inferred relationship	Some
Structure of median eminence of pons	Is a	False	Pontine structure	Inferred relationship	Some
Structure of isthmus of rhombencephalon	Is a	False	Pontine structure	Inferred relationship	Some
Structure of tegmentum of rhombencephalon	Is a	False	Pontine structure	Inferred relationship	Some
Rhomboid fossa structure	Is a	False	Pontine structure	Inferred relationship	Some
Malignant neoplasm of pons	Finding site	False	Pontine structure	Inferred relationship	Some	1
Foville's syndrome I	Finding site	False	Pontine structure	Inferred relationship	Some
Nuclear facial nerve paralysis	Finding site	True	Pontine structure	Inferred relationship	Some	1
Congenital pontocerebellar hypoplasia	Finding site	False	Pontine structure	Inferred relationship	Some	1
Foville-Wilson syndrome	Finding site	False	Pontine structure	Inferred relationship	Some	1
Central pontine myelinolysis	Finding site	False	Pontine structure	Inferred relationship	Some	1
Foville's syndrome II	Finding site	False	Pontine structure	Inferred relationship	Some	1
Intrapontine hemorrhage	Finding site	False	Pontine structure	Inferred relationship	Some	1
Pontine one and a half syndrome	Finding site	True	Pontine structure	Inferred relationship	Some	2
Benign neoplasm of pons	Finding site	False	Pontine structure	Inferred relationship	Some	1
Congenital pontocerebellar hypoplasia	Finding site	False	Pontine structure	Inferred relationship	Some	1
Central pontine myelinolysis	Finding site	True	Pontine structure	Inferred relationship	Some	1
Intrapontine hemorrhage	Finding site	True	Pontine structure	Inferred relationship	Some	1
Benign neoplasm of pons	Finding site	True	Pontine structure	Inferred relationship	Some	1
Malignant neoplasm of pons	Finding site	True	Pontine structure	Inferred relationship	Some	1
Foville's syndrome II	Finding site	False	Pontine structure	Inferred relationship	Some	1
Foville's syndrome II	Finding site	False	Pontine structure	Inferred relationship	Some	4
Congenital pontocerebellar hypoplasia	Finding site	True	Pontine structure	Inferred relationship	Some	2
Congenital pontocerebellar hypoplasia	Finding site	False	Pontine structure	Inferred relationship	Some	3
A rare, genetic form of pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy that manifests clinically with uncoordinated sucking and swallowing, and generalized clonus in the neonate. In early childhood, spasticity, chorea/dyskinesia, seizures and progressive microcephaly develop. Voluntary motor development is lacking.	Finding site	True	Pontine structure	Inferred relationship	Some	2
Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.	Finding site	False	Pontine structure	Inferred relationship	Some	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	False	Pontine structure	Inferred relationship	Some	2
Congenital pontocerebellar hypoplasia type 5 (disorder)	Finding site	False	Pontine structure	Inferred relationship	Some	2
A severe, genetic form of pontocerebellar hypoplasia (PCH) characterised by delayed neocortical maturation with underdeveloped cerebral hemispheres and pontocerebellar hypoplasia and a severely affected vermis. Clinically, the disorder manifests with prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.	Finding site	True	Pontine structure	Inferred relationship	Some	2
A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized 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	Pontine structure	Inferred relationship	Some	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	False	Pontine structure	Inferred relationship	Some	2
Pontocerebellar hypoplasia type 8 (PCH8) is a novel very rare form of pontocerebellar hypoplasia characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.	Finding site	False	Pontine structure	Inferred relationship	Some	2
A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized 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	Pontine structure	Inferred relationship	Some	1
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	Pontine structure	Inferred relationship	Some	1
Pontocerebellar hypoplasia type 8 (PCH8) is a novel very rare form of pontocerebellar hypoplasia characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.	Finding site	True	Pontine structure	Inferred relationship	Some	1
Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.	Finding site	True	Pontine structure	Inferred relationship	Some	1
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	Pontine structure	Inferred relationship	Some	1
Congenital pontocerebellar hypoplasia type 5 (disorder)	Finding site	True	Pontine structure	Inferred relationship	Some	1
A rare, genetic, non-syndromic pontocerebellar hypoplasia characterized by progressive cerebellum and brainstem atrophy, corpus callosum hypo-/aplasia and progressive post-natal microcephaly. Patients typically present profound global developmental delay, spastic tetraparesis, seizures, cortical visual impairment and, on neuroimaging, abnormal brain morphology that includes pontocerebellar hypoplasia, figure of 8 midbrain appearance, and, more variably, interhemispheric cysts, ventriculomegaly and cerebral dysmyelination.	Finding site	True	Pontine structure	Inferred relationship	Some	1
A rare, genetic, pontocerebellar hypoplasia subtype characterized by severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures, and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root, and hypoplastic alae nasi) and an axonal sensorimotor neuropathy.	Finding site	True	Pontine structure	Inferred relationship	Some	2
A rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disease characterized by the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus and, occasionally, optic nerve hypoplasia. Brain imaging reveals variable malformations, including frontally predominant microgyria, gyral disorganization and simplification, dysmorphic and hypertrophic basal ganglia, cerebellar vermis dysplasia, brainstem/corpus callosum hypoplasia, and/or olfactory bulbs agenesis.	Finding site	True	Pontine structure	Inferred relationship	Some	3
Abscess of pons cerebri (disorder)	Finding site	True	Pontine structure	Inferred relationship	Some	1
Diffuse intrinsic pontine glioma (disorder)	Finding site	True	Pontine structure	Inferred relationship	Some	1
Foville syndrome	Finding site	True	Pontine structure	Inferred relationship	Some	1
Osmotic demyelination syndrome (disorder)	Finding site	True	Pontine structure	Inferred relationship	Some	1
Primary diffuse intrinsic pontine glioma (disorder)	Finding site	True	Pontine structure	Inferred relationship	Some	1
A form of pontocerebellar hypoplasia characterized by microcephaly, severe global developmental delay and intellectual disability, dysmorphic facial features, cerebellar syndrome, and pontocerebellar hypoplasia on brain imaging. Behavioral abnormalities are frequently observed. Other reported manifestations include seizures, ocular anomalies, recurrent respiratory infections, and thin or absent corpus callosum, among others.	Finding site	True	Pontine structure	Inferred relationship	Some	3
A lethal form of pontocerebellar hypoplasia with characteristics of prenatal onset of microcephaly, hypoplasia of the cerebellum, brainstem, and spinal cord, dysmorphic craniofacial features such as sloping forehead and micrognathia, and multiple contractures. Supratentorial atrophy has also been reported.	Finding site	True	Pontine structure	Inferred relationship	Some	4
A form of pontocerebellar hypoplasia with characteristics of infantile onset of severe global developmental delay with absent speech, hypotonia, feeding problems, dysmorphic craniofacial features, and development of pontocerebellar hypoplasia on brain imaging later in childhood. Other structural abnormalities of the brain, which may already be apparent at an earlier stage, include small hippocampus, thin corpus callosum, periventricular white matter abnormalities, and Dandy-Walker malformation. Seizures, nystagmus, and cortical visual impairment have been reported in some cases.	Finding site	True	Pontine structure	Inferred relationship	Some	2
A form of pontocerebellar hypoplasia characterised by severe, progressive microcephaly and severe global developmental delay apparent from birth, severe intellectual disability with lack of social interactions and absence of speech, and pontocerebellar hypoplasia and complete or partial agenesis of the corpus callosum on brain imaging. In addition, affected individuals often present hypotonia, spastic tetraplegia, and early-onset seizures. Chronic anaemia and thrombocytopenia have also been reported.	Finding site	True	Pontine structure	Inferred relationship	Some	3
Atrophy of pons and cerebellum (disorder)	Finding site	True	Pontine structure	Inferred relationship	Some	2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by pontocerebellar hypoplasia, hypotonia and respiratory insufficiency. Cardiac anomalies (particularly hypertrophic cardiomyopathy), eye manifestations (congenital cataracts, corneal clouding), seizures and facial dysmorphism (including microcephaly, bitemporal narrowing, absence of eyelashes, short palpebral fissures, small and low-set ears, anteverted nares, microstomia, and micrognathia) are present in the majority of the patients. Additional findings such as hepatosplenomegaly, edema, micropenis/cryptorchidism, hypoglycemia, hypernatremia, increased triglycerides, elevated plasma lactate and decreased plasma cholesterol were reported. Brain imaging may reveal simplified/delayed cortical gyration, dilated ventricles, and periventricular or diffuse white matter abnormalities. It is mostly caused by biallelic deletions in the ATAD3 gene cluster (ATAD3A, ATAD3B and ATAD3C) or by point mutations in the ATAD3A gene. Even though the syndrome is mostly neonatally lethal, some patients, regardless of the type of the mutation/deletion they harbor, may have a less severe condition and may survive.	Finding site	True	Pontine structure	Inferred relationship	Some	2

Reference Sets

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

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

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
82547014	Pons	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
82549012	Pons cerebri	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
495434011	Pontine structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
787248019	Pontine structure (body structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5650221000241119	pont	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5650231000241117	structure du pont	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module