12738006: Brain 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

\An anatomical structure that consists of the maximal set of organ parts so connected to one another that together they constitute a self-contained unit of macroscopic anatomy, distinct both morphologically and functionally from other such units. Together with other organs, an organ constitutes an organ system or a body part. An organ is divisible into organ parts but not organs (examples: femur, biceps, liver, heart, aorta, sciatic nerve, ovary).\Brain and spinal cord structure (body structure)\Brain 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

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

Descriptions:

Id Description Lang Type Status Case? Module

21867017 Brain en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

474135016 Brain structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

731463013 Brain structure (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Brain structure	Is a	Intracranial structure (body structure)	true	Inferred relationship	Some
Brain structure	Part of	Entire cranial cavity	false	Additional relationship	Some
Brain structure	Part of	Entire central nervous system	false	Additional relationship	Some
Brain structure	Is a	Brain and spinal cord structure (body structure)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Fungal infection of brain	Finding site	True	Brain structure	Inferred relationship	Some	1
A rare genetic neurodevelopmental disorder characterized by early-onset drug-resistant seizures and severe neurodevelopmental impairment with major motor development delay.	Finding site	True	Brain structure	Inferred relationship	Some	1
A rare, autosomal recessive, syndromic intellectual disability disorder characterized by global development delay, mild microcephaly, mild to severe intellectual disability and non-specific facial dysmorphism in association with variable multiple congenital anomalies including congenital heart defects, dental anomalies, cryptorchidism, renal and cerebral malformations. Short stature is frequent.	Finding site	False	Brain structure	Inferred relationship	Some	1
A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss.	Finding site	False	Brain structure	Inferred relationship	Some	1
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome is a rare, non-acquired pituitary hormone deficiency syndrome characterized by severe, congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature.	Finding site	False	Brain structure	Inferred relationship	Some	1
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency is a rare inborn error of metabolism disorder characterized by early-onset, acute, encephalopathic episodes (frequently triggered by viral infections), associated with lactic acidosis and alpha-ketoglutaric aciduria, which typically manifest with variable degrees of ataxia, generalized developmental regression (which deteriorates with each episode) and dystonia. Other manifestations include spasticity, seizures, truncal hypotonia, limb hypertonia, brisk tendon reflexes and reversible coma.	Finding site	True	Brain structure	Inferred relationship	Some	1
Holoanencephaly (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	2
A rare, genetic, central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported.	Finding site	False	Brain structure	Inferred relationship	Some	3
Pitt Hopkins-like syndrome	Finding site	False	Brain structure	Inferred relationship	Some	2
A rare, genetic neurodegenerative disease characterized by dementia and mild parkinsonism with poor levodopa response. Presenting clinical manifestations are memory problems, short attention span, disorientation, language impairment, rigidity, bradykinesia, postural instability and behavioral changes, including apathy, anxiety and delusions.	Finding site	True	Brain structure	Inferred relationship	Some	1
Ferro-cerebro-cutaneous syndrome is a rare, genetic, metabolic liver disease characterized by progressive neurodegeneration, cutaneous abnormalities, including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations, including microdontia, widely spaced and pointed teeth with delayed eruption, and gingival overgrowth.	Finding site	True	Brain structure	Inferred relationship	Some	1
A rare neuroinflammatory disease characterized by the onset of ataxia, dysarthria and cerebral white matter changes which are triggered by viral infection. Episodic progressive neurodegeneration (manifesting with loss of motor and verbal skills, muscle weakness, further cerebral white matter degeneration and, eventually, death) is observed in the absence of hematopathology, cytokine overproduction, fever, hypertriglyceridemia, hypofibrinogenemia and hyperferritinemia.	Finding site	True	Brain structure	Inferred relationship	Some	1
A rare neuroinflammatory disease characterized by the onset of ataxia, dysarthria and cerebral white matter changes which are triggered by viral infection. Episodic progressive neurodegeneration (manifesting with loss of motor and verbal skills, muscle weakness, further cerebral white matter degeneration and, eventually, death) is observed in the absence of hematopathology, cytokine overproduction, fever, hypertriglyceridemia, hypofibrinogenemia and hyperferritinemia.	Finding site	True	Brain structure	Inferred relationship	Some	2
Subdural hemorrhage following injury without open intracranial wound AND with no loss of consciousness	Finding site	False	Brain structure	Inferred relationship	Some	1
A rare, genetic, non-syndromic, developmental defect during embryogenesis malformation syndrome characterized by a congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate intellectual disability, as well as early psychomotor delay, may or may not be associated.	Finding site	False	Brain structure	Inferred relationship	Some	1
A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by infantile onset encephalomyopathy presenting with developmental delay, slowly progressive hemiplegia, intractable epileptic seizures and asymmetrical brain atrophy with dilatation of the ipsilateral ventricle system. Additional features include optic atrophy, mildly increased plasma and/or CSF lactate and decreased cytochrome c oxidase activity in skeletal muscle biopsy.	Finding site	True	Brain structure	Inferred relationship	Some	2
Encephalopathy caused by SCN2A mutation. SCN2A encodes the major subunit of voltage-gated sodium channels in excitatory neurons. Mutation may be associated with hereditary disease including autosomal dominant epilepsy syndrome and benign familial neonatal infantile seizures. De novo SCN2A mutations have been accepted to cause severe disorders including epileptic encephalopathies, intellectual disability without epilepsy, Ohtahara and West syndrome, epilepsy of infancy with migrating focal seizures (EIMFS).	Finding site	True	Brain structure	Inferred relationship	Some	1
Cerebral gnathostomiasis	Finding site	True	Brain structure	Inferred relationship	Some	1
Encephalopathy caused by Influenza A virus subtype H1N1	Finding site	True	Brain structure	Inferred relationship	Some	1
Encephalopathy caused by Influenza A virus (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
A rare lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). There have been no further descriptions in the literature since 1963.	Finding site	True	Brain structure	Inferred relationship	Some	2
Cerebral loiasis	Finding site	True	Brain structure	Inferred relationship	Some	1
Cysticercosis of brain	Finding site	True	Brain structure	Inferred relationship	Some	1
Hemicephaly	Finding site	False	Brain structure	Inferred relationship	Some	2
Lipoma of brain (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
A rare, genetic, syndromic intellectual disability disorder characterized by congenital, persistent microcephaly, low birth weight, short stature, childhood-onset seizures, global development delay, mild intellectual disability, and adolescent or young adult-onset diabetes mellitus. Gait ataxia, skeletal abnormalities, dorsocervical fat pad, and infantile cirrhosis may also be associated. Brain morphology is typically normal, although delayed myelination and hypoplastic brainstem have been reported.	Finding site	False	Brain structure	Inferred relationship	Some	1
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome is a rare, genetic, neurologic disease characterized by congenital microcephaly, severe, early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent, neonatal, insulin-dependent diabetes mellitus, and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties, and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum.	Finding site	False	Brain structure	Inferred relationship	Some	1
Cerebral cryptococcosis	Finding site	True	Brain structure	Inferred relationship	Some	1
Leigh syndrome with nephrotic syndrome	Finding site	False	Brain structure	Inferred relationship	Some	1
A rare, genetic, congenital muscular dystrophy due to dystroglycanopathy disorder characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy and delayed or arrested motor development, associated with mild to severe intellectual disability and variable brain abnormalities on neuroimaging studies. Feeding difficulties, joint and spinal deformities, respiratory insufficiency, and ocular anomalies (e.g. strabismus, retinal dystrophy, oculomotor apraxia) may be associated. Decreased or absent alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.	Finding site	True	Brain structure	Inferred relationship	Some	2
A rare, neurodegenerative disease characterized by progressive cataracts, hearing loss, cerebellar ataxia, paranoid psychosis and dementia. Neuropathological features are diffuse atrophy of all parts of the brain, chronic diffuse encephalopathy and the presence of extremely thin and almost completely demyelinated cranial nerves.	Finding site	False	Brain structure	Inferred relationship	Some	1
Encephalocele of vertex (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	2
Encephalomyelocele	Finding site	True	Brain structure	Inferred relationship	Some	2
Congenital endaural hernia	Finding site	False	Brain structure	Inferred relationship	Some	2
Frontal encephalocele	Finding site	True	Brain structure	Inferred relationship	Some	2
Encephalocele	Finding site	True	Brain structure	Inferred relationship	Some	2
Frontoethmoidal encephalocele	Finding site	True	Brain structure	Inferred relationship	Some	2
Brain injury with open intracranial wound AND concussion	Finding site	False	Brain structure	Inferred relationship	Some	1
Acute confusional state, of infective origin (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
Nasal encephalocele	Finding site	False	Brain structure	Inferred relationship	Some	3
Infectious disease of brain	Finding site	True	Brain structure	Inferred relationship	Some	1
Subacute confusional state, of infective origin	Finding site	True	Brain structure	Inferred relationship	Some	1
A rare epileptic and developmental encephalopathy characterized by seizure onset during the first months of life, focal seizures arising independently in both hemispheres, marked drug resistance, and severe, long-term cognitive disability.	Finding site	True	Brain structure	Inferred relationship	Some	1
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (e.g. patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (i.e. hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal abnormalities (including gastroesophageal reflux, anal stenosis, imperforate anus, ano-vestibular fistula), as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large, open mouth with thin lips, high-arched palate, and micro/retrognathia.	Finding site	True	Brain structure	Inferred relationship	Some	2
A rare, genetic, cobblestone lissencephaly disease characterized by the presence of a constellation of brain malformations, including cortical gyral and sulcus anomalies, white matter signal abnormalities, cerebellar dysplasia and brainstem hypoplasia, existing alone or in conjunction with minimal muscular and ocular abnormalities, typically manifesting with severe developmental delay, increased head circumference, hydrocephalus and seizures.	Finding site	True	Brain structure	Inferred relationship	Some	1
Cerebrovascular accident due to stenosis of bilateral carotid arteries (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
A rare congenital muscular alpha-dystroglycanopathy with brain and eye anomalies disease characterized by a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease.	Finding site	True	Brain structure	Inferred relationship	Some	4
A rare, genetic, central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported.	Finding site	True	Brain structure	Inferred relationship	Some	1
Delirium due to opioid withdrawal	Finding site	True	Brain structure	Inferred relationship	Some	1
Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.	Finding site	True	Brain structure	Inferred relationship	Some	3
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	False	Brain structure	Inferred relationship	Some	3
Placement of depth electrode into brain for electroencephalography	Procedure site - Indirect (attribute)	False	Brain structure	Inferred relationship	Some	3
Traumatic cerebral edema with open intracranial wound	Finding site	False	Brain structure	Inferred relationship	Some	4
A rare, genetic, neurometabolic disorder characterised by severe, progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia, and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia, and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomegaly, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated.	Finding site	False	Brain structure	Inferred relationship	Some	2
Focal traumatic hemorrhage of brainstem (disorder)	Finding site	False	Brain structure	Inferred relationship	Some	3
Focal traumatic hemorrhage of cerebellum (disorder)	Finding site	False	Brain structure	Inferred relationship	Some	1
Focal traumatic hematoma of cerebellum (disorder)	Finding site	False	Brain structure	Inferred relationship	Some	1
Focal traumatic hematoma of brainstem (disorder)	Finding site	False	Brain structure	Inferred relationship	Some	3
Anxiety disorder caused by methamphetamine (disorder)	Finding site	False	Brain structure	Inferred relationship	Some	2
Methamphetamine withdrawal	Finding site	False	Brain structure	Inferred relationship	Some	2
Delirium due to methamphetamine intoxication	Finding site	True	Brain structure	Inferred relationship	Some	1
Delirium due to substance withdrawal syndrome (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
Acute disseminated encephalomyelitis following infectious disease (disorder)	Finding site	False	Brain structure	Inferred relationship	Some	7
Cerebrovascular accident due to occlusion of bilateral pontine arteries (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
Cerebrovascular accident due to stenosis of bilateral vertebral arteries	Finding site	True	Brain structure	Inferred relationship	Some	1
Intracerebral hemorrhage in fetus or newborn	Finding site	False	Brain structure	Inferred relationship	Some	1
Fetal cerebral haemorrhage	Finding site	True	Brain structure	Inferred relationship	Some	1
Cerebral hemorrhage due to intrapartum anoxia or hypoxia (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
Seckel syndrome	Finding site	False	Brain structure	Inferred relationship	Some	2
PPM-X syndrome	Finding site	False	Brain structure	Inferred relationship	Some	1
FOXG1 syndrome	Finding site	True	Brain structure	Inferred relationship	Some	1
Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.	Finding site	False	Brain structure	Inferred relationship	Some	2
Acute hemorrhagic leukoencephalitis	Finding site	True	Brain structure	Inferred relationship	Some	4
A rare degenerative mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.	Finding site	True	Brain structure	Inferred relationship	Some	1
RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.	Finding site	True	Brain structure	Inferred relationship	Some	3
Acute disseminated encephalomyelitis	Finding site	True	Brain structure	Inferred relationship	Some	1
Amnestic disorder caused by psychoactive substance	Finding site	False	Brain structure	Inferred relationship	Some	2
Amnestic disorder caused by volatile solvent	Finding site	False	Brain structure	Inferred relationship	Some	2
Cerebral ischemic stroke due to dissection of artery (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
Cerebral ischemic stroke due to aortic arch embolism	Finding site	True	Brain structure	Inferred relationship	Some	1
Cerebral ischemic stroke due to global hypoperfusion with watershed infarct (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
Cerebral ischemic stroke due to hypercoagulable state (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
Cerebral ischemic stroke due to subarachnoid hemorrhage	Finding site	True	Brain structure	Inferred relationship	Some	1
Dementia caused by volatile inhalant (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	3
Dementia due to pellagra (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	2
Focal brain contusion	Finding site	True	Brain structure	Inferred relationship	Some	1
Focal brain laceration	Finding site	True	Brain structure	Inferred relationship	Some	1
Mood disorder caused by cannabis	Finding site	False	Brain structure	Inferred relationship	Some	2
A rare, genetic, neurologic disease characterized by primary hyperaldosteronism presenting with early-onset, severe hypertension, hypokalemia and neurological manifestations (including seizures, severe hypotonia, spasticity, cerebral palsy and profound developmental delay/intellectual disability).	Finding site	True	Brain structure	Inferred relationship	Some	1
MRI of brain	Procedure site - Direct (attribute)	True	Brain structure	Inferred relationship	Some	1
Insulin coma (disorder)	Finding site	False	Brain structure	Inferred relationship	Some	2
Non-diabetic hypoglycaemic coma	Finding site	True	Brain structure	Inferred relationship	Some	2
Hypoglycemic coma due to type 1 diabetes mellitus (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	2
Hypoglycaemic coma in diabetes mellitus	Finding site	True	Brain structure	Inferred relationship	Some	2
Hypoglycaemic coma	Finding site	True	Brain structure	Inferred relationship	Some	3
Hypoglycemic coma due to type 2 diabetes mellitus	Finding site	True	Brain structure	Inferred relationship	Some	2
Ketoacidotic coma due to type 1 diabetes mellitus (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	4
Ketoacidotic coma due to type 2 diabetes mellitus (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	2
Ketoacidotic coma due to diabetes mellitus	Finding site	True	Brain structure	Inferred relationship	Some	3
Coma due to diabetes mellitus (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
Coma due to malnutrition-related diabetes mellitus	Finding site	True	Brain structure	Inferred relationship	Some	1

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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
21867017	Brain	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
474135016	Brain structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
731463013	Brain structure (body structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core