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12738006: Brain 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:

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
4152011000005116 struktur af encefalon da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


1913 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Brain structure Is a Intracranial structure true Inferred relationship Some
Brain structure del af Entire cranial cavity false Additional relationship Some
Brain structure del af 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
Disease with characteristics of seizures that are resistant to treatment and begin in infancy. Development is impaired most children have severe intellectual disability and little or no speech. Common features include stereotypies, bruxism, disrupted sleep, feeding difficulties and gastrointestinal problems. Some individuals have distinctive facial features including a high and broad forehead, large and deep-set eyes, a well-defined philtrum, high palate. Microcephaly, scoliosis and tapered fingers have also been reported. Caused by mutations in the CDKL5 gene, which disrupts brain development. Inherited in an X-linked dominant pattern. The CDKL5 gene is located on the X chromosome however almost all cases of this condition result from de novo mutations in the CDKL5 gene. Finding site True Brain structure Inferred relationship Some 1
A rare genetic syndromic intellectual disability disorder with characteristics of global development delay, microcephaly, moderate to severe intellectual disability and facial dysmorphism which includes tall forehead, high anterior hairline, short upslanting palpebral fissures, deep-set eyes and a long nose with a low-hanging columella. Additionally congenital renal and cardiac malformations (such as horseshoe kidney, unilateral renal agenesis atrioventricular septal defects, patent ductus arteriosus) and corpus callosum dysplasia may be associated. The disease is caused by homozygous mutation in the THOC6 gene on chromosome 16p13. Finding site False Brain structure Inferred relationship Some 1
A rare genetic syndromic intellectual disability disorder characterised by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioural anomalies (for example autistic behaviour, sleeping disturbances), urogenital abnormalities (for example cryptorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects. There is evidence the disease is caused by heterozygous mutation in the CTCF gene on chromosome 16q22. Finding site False Brain structure Inferred relationship Some 1
A rare non-acquired pituitary hormone deficiency syndrome with characteristics of 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
A rare inborn error of metabolism disorder with 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, generalised developmental regression (which deteriorates with each episode) and dystonia. Other manifestations include spasticity, seizures, truncal hypotonia, limb hypertonia, brisk tendon reflexes and reversible coma. Caused by homozygous or compound heterozygous mutation in the TPK1 gene on chromosome 7q35. 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. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25. 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 with characteristics of 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 behavioural changes including apathy, anxiety and delusions. Finding site True Brain structure Inferred relationship Some 1
A rare genetic metabolic liver disease with characteristics of progressive neurodegeneration, cutaneous abnormalities including varying degrees of ichthyosis or seborrhoeic 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 characterised by the onset of ataxia, dysarthria and cerebral white matter changes that 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 haematopathology, cytokine overproduction, fever, hypertriglyceridaemia, hypofibrinogenaemia and hyperferritinemia. Finding site True Brain structure Inferred relationship Some 1
A rare neuroinflammatory disease characterised by the onset of ataxia, dysarthria and cerebral white matter changes that 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 haematopathology, cytokine overproduction, fever, hypertriglyceridaemia, hypofibrinogenaemia and hyperferritinemia. Finding site True Brain structure Inferred relationship Some 2
Subdural blødning efter traumatisk læsion uden åbent intrakranielt sår OG uden bevidstløshed Finding site False Brain structure Inferred relationship Some 1
A rare genetic non-syndromic developmental defect during embryogenesis malformation syndrome with characteristics of 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 with characteristics of 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 with characteristics of 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
A rare genetic neurologic disease with characteristics of 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. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the IER3IP1 gene on chromosome 18q21. 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. The disease has characteristics of a wide phenotypic spectrum including hypotonia and muscular weakness, which is 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 (for example 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 with characteristics of 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. Caused by mutation in the ITM2B gene. 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
Kongenit endaural hernie 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 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 genetic neonatal epilepsy syndrome disease with characteristics of onset in the first 6 months of life of almost continuous migrating polymorphous focal seizures with corresponding multifocal ictal electroencephalographic discharges, progressive deterioration of psychomotor development and usually early mortality. Finding site True Brain structure Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, 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. Caused by homozygous mutation in the PIGN gene on chromosome 18q21. Finding site True Brain structure Inferred relationship Some 2
A rare genetic cobblestone lissencephaly disease with characteristics of 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. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the LAMB1 gene on chromosome 7q31. 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 genetic congenital muscular alpha-dystroglycanopathy with brain and eye anomalies. The disorder has characteristics of a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease. There is evidence the disease is caused by homozygous mutation in the DAG1 gene on chromosome 3p21. 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. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25. 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 with characteristics of 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. Caused by compound heterozygous mutation in the QARS gene on chromosome 3p21. 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 with characteristics of 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. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the ASNS gene on chromosome 7q21. 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 blødning hos foster eller nyfødt Finding site False Brain structure Inferred relationship Some 1
Fetal cerebral hemorrhage 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
A rare multiple malformation syndrome with characteristics of severe intrauterine growth retardation, severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. Severe central nervous system defects are present. The syndrome is transmitted in an autosomal recessive manner. 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 with characteristics of 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). There is evidence the disease is caused by heterozygous mutation in the CACNA1D gene on chromosome 3p21. 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 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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