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
Intracranial hemorrhage following injury with open intracranial wound AND concussion	Finding site	True	Brain structure	Inferred relationship	Some	1
Intracranial subdural hemorrhage following injury with open intracranial wound and concussion (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	3
Cerebellar laceration without open intracranial wound AND with concussion	Finding site	False	Brain structure	Inferred relationship	Some	1
Brain stem laceration without open intracranial wound AND with concussion	Finding site	False	Brain structure	Inferred relationship	Some	1
Subdural hemorrhage following injury without open intracranial wound AND with concussion	Finding site	False	Brain structure	Inferred relationship	Some	1
Closed fracture of base of skull with concussion	Finding site	True	Brain structure	Inferred relationship	Some	2
Gonococcal abscess of brain (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
Open fracture of vault of skull with concussion	Finding site	True	Brain structure	Inferred relationship	Some	2
Closed fracture of vault of skull with concussion	Finding site	True	Brain structure	Inferred relationship	Some	2
Brain injury without open intracranial wound AND with concussion	Finding site	False	Brain structure	Inferred relationship	Some	1
Cortex laceration without open intracranial wound AND with concussion	Finding site	False	Brain structure	Inferred relationship	Some	1
Repeated concussion	Finding site	True	Brain structure	Inferred relationship	Some	2
Traumatic brain injury of unknown intent	Finding site	True	Brain structure	Inferred relationship	Some	1
A disorder characterized by a decline primarily in intellectual function due to disease of the brain caused by a variety of acquired conditions such as cerebrovascular disease, Alzheimer's disease, infections, adverse drug reactions and trauma.	Finding site	True	Brain structure	Inferred relationship	Some	3
Colpocephaly	Finding site	False	Brain structure	Inferred relationship	Some	3
Medulloblastoma (disorder)	Finding site	False	Brain structure	Inferred relationship	Some	2
Classic medulloblastoma (disorder)	Finding site	False	Brain structure	Inferred relationship	Some	2
Spontaneous cerebral haemorrhage with compression of brain	Finding site	True	Brain structure	Inferred relationship	Some	3
Spontaneous cerebral haemorrhage with compression of brain	Finding site	True	Brain structure	Inferred relationship	Some	4
Compression of brain co-occurrent and due to nontraumatic subarachnoid hemorrhage (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	3
Encephalopathy caused by Influenza A virus subtype H1N1	Finding site	False	Brain structure	Inferred relationship	Some
Encephalopathy caused by avian influenza	Finding site	False	Brain structure	Inferred relationship	Some
Encephalopathy caused by Influenza A virus (disorder)	Finding site	False	Brain structure	Inferred relationship	Some
Actinomycotic brain abscess	Finding site	True	Brain structure	Inferred relationship	Some	2
Psychosis caused by inhalant	Finding site	False	Brain structure	Inferred relationship	Some	3
Known OR suspected fetal anencephaly affecting obstetrical care	Finding site	False	Brain structure	Inferred relationship	Some	4
Anencephalus and similar anomalies	Finding site	False	Brain structure	Inferred relationship	Some	3
Incomplete anencephaly	Finding site	False	Brain structure	Inferred relationship	Some	3
Tuberculoma of brain	Finding site	True	Brain structure	Inferred relationship	Some	3
Holoanencephaly (disorder)	Finding site	False	Brain structure	Inferred relationship	Some	4
Cerebellar contusion with open intracranial wound AND concussion	Finding site	False	Brain structure	Inferred relationship	Some	3
Cerebroretinal microangiopathy with calcifications and cysts	Finding site	False	Brain structure	Inferred relationship	Some	3
Cerebroretinal microangiopathy with calcifications and cysts	Finding site	True	Brain structure	Inferred relationship	Some	4
Tuberculous abscess of brain	Finding site	False	Brain structure	Inferred relationship	Some	4
Hepatic coma due to acute hepatic failure (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	2
Hepatic coma due to chronic hepatitis C (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	2
Hepatic coma due to chronic hepatic failure (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	2
Hepatic coma due to alcoholic liver failure (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	2
Hepatic coma due to hepatitis (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	2
Hepatic coma due to acute hepatitis C (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	2
Hepatic coma due to chronic hepatitis B with delta agent (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	2
Hepatic coma due to subacute liver failure (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	2
Bacterial infectious disease of brain	Finding site	True	Brain structure	Inferred relationship	Some	1
An epileptic seizure originating within networks limited to one hemisphere with impaired awareness (defined as impairment of knowledge of self and environment) occurring at any point within the seizure, regardless of whether motor or nonmotor.	Finding site	True	Brain structure	Inferred relationship	Some	1
Brain cyst fluid specimen	Specimen source topography	False	Brain structure	Inferred relationship	Some	1
Specimen from brain obtained by fine needle aspiration (specimen)	Specimen source topography	True	Brain structure	Inferred relationship	Some	1
Benign autosomal dominant microcephaly	Finding site	False	Brain structure	Inferred relationship	Some	2
Primary microcephaly	Finding site	False	Brain structure	Inferred relationship	Some	2
Microcephalic osteodysplastic dysplasia	Finding site	False	Brain structure	Inferred relationship	Some	1
Microcephalus	Finding site	False	Brain structure	Inferred relationship	Some	2
Secondary microcephaly	Finding site	False	Brain structure	Inferred relationship	Some	2
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	3
Microcephaly-capillary malformation syndrome	Finding site	False	Brain structure	Inferred relationship	Some	1
Amish lethal microcephaly (disorder)	Finding site	False	Brain structure	Inferred relationship	Some	2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Finding site	False	Brain structure	Inferred relationship	Some	1
Fetal microcephaly (disorder)	Finding site	False	Brain structure	Inferred relationship	Some	2
Brain neoplasm tissue specimen (specimen)	Specimen source topography	True	Brain structure	Inferred relationship	Some	1
Tuberculosis of brain	Finding site	True	Brain structure	Inferred relationship	Some	3
Primary malignant neoplasm of rectosigmoid junction metastatic to brain	Finding site	False	Brain structure	Inferred relationship	Some	3
Opioid-induced mood disorder due to opioid abuse	Finding site	False	Brain structure	Inferred relationship	Some	4
Opioid-induced mood disorder due to opioid dependence	Finding site	False	Brain structure	Inferred relationship	Some	4
Epileptic dementia with behavioral disturbance	Finding site	False	Brain structure	Inferred relationship	Some
Cerebral pseudoatrophy (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
Presenile dementia co-occurrent with human immunodeficiency virus infection	Finding site	True	Brain structure	Inferred relationship	Some	3
Organic brain syndrome co-occurrent with human immunodeficiency virus infection (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
Positron emission tomography fluorine 18 choline uptake study of brain	Procedure site - Direct (attribute)	False	Brain structure	Inferred relationship	Some	1
Dementia co-occurrent with human immunodeficiency virus infection	Finding site	True	Brain structure	Inferred relationship	Some	3
Congenital pseudoporencephaly	Finding site	True	Brain structure	Inferred relationship	Some	2
Positron emission tomography with computed tomography of brain using florbetapir (18-F)	Procedure site - Direct (attribute)	True	Brain structure	Inferred relationship	Some	2
Positron emission tomography with computed tomography of brain using florbetapir (18-F)	Procedure site - Direct (attribute)	True	Brain structure	Inferred relationship	Some	3
Lissencephaly co-occurrent with congenital cerebellar hypoplasia (disorder)	Finding site	False	Brain structure	Inferred relationship	Some	2
A rare form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of this disorder.	Finding site	False	Brain structure	Inferred relationship	Some	2
A severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death.	Finding site	False	Brain structure	Inferred relationship	Some	2
A rare form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (<= -3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.	Finding site	False	Brain structure	Inferred relationship	Some	2
A severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum.	Finding site	False	Brain structure	Inferred relationship	Some	2
Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterized by intellectual deficiency and seizures that are more severe in male patients.	Finding site	False	Brain structure	Inferred relationship	Some	3
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.	Finding site	False	Brain structure	Inferred relationship	Some	3
The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation. It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies.	Finding site	False	Brain structure	Inferred relationship	Some	6
A diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures.	Finding site	False	Brain structure	Inferred relationship	Some	3
Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983.	Finding site	False	Brain structure	Inferred relationship	Some	3
Benign focal seizure of adolescence (disorder)	Finding site	False	Brain structure	Inferred relationship	Some	2
Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive.	Finding site	False	Brain structure	Inferred relationship	Some	2
A rare disorder characterized by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive.	Finding site	False	Brain structure	Inferred relationship	Some	1
Microcephaly-microcornea syndrome, Seemanova type is characterized by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait.	Finding site	False	Brain structure	Inferred relationship	Some	2
Insertion of deep brain electrical stimulation system lead into brain (procedure)	Procedure site - Indirect (attribute)	True	Brain structure	Inferred relationship	Some	1
A rare, genetic, renal tubular disease characterized by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual disability, short stature and facial dysmorphism. There have been no further descriptions in the literature since 1990.	Finding site	True	Brain structure	Inferred relationship	Some	3
Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.	Finding site	True	Brain structure	Inferred relationship	Some	1
Microcephaly-deafness-intellectual disability syndrome is characterized by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant.	Finding site	False	Brain structure	Inferred relationship	Some	5
Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid.	Finding site	True	Brain structure	Inferred relationship	Some	3
An extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.	Finding site	False	Brain structure	Inferred relationship	Some	3
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by lissencephaly, agenesis of the corpus callosum and other cerebral structural anomalies, early-onset intractable seizures, and ambiguous genitalia. Consequences of hypothalamic dysfunction, such as disturbed temperature regulation, may be observed. Additional anomalies including dysmorphic craniofacial features have been reported. The disease is fatal in infancy or childhood in males, while female carriers may be unaffected or show a milder phenotype with developmental delay, behavioral abnormalities, and seizures.	Finding site	False	Brain structure	Inferred relationship	Some	4
Lissencephaly syndrome, Norman-Roberts type is characterized by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.	Finding site	False	Brain structure	Inferred relationship	Some	3
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation.	Finding site	True	Brain structure	Inferred relationship	Some	2
Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.	Finding site	False	Brain structure	Inferred relationship	Some	1
A rare, capillary-venous malformations characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages.	Finding site	True	Brain structure	Inferred relationship	Some	1
Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypertrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.	Finding site	True	Brain structure	Inferred relationship	Some	2
A rare degenerative mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.	Finding site	False	Brain structure	Inferred relationship	Some	2
Memory disorder co-occurrent and due to organic brain damage (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria.	Finding site	False	Brain structure	Inferred relationship	Some	3
Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases. Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis.	Finding site	True	Brain structure	Inferred relationship	Some	5
An extremely rare genetic syndrome characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case.	Finding site	False	Brain structure	Inferred relationship	Some	2

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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