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
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
Amnestic disorder associated with general medical condition (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	2
Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterised by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.	Finding site	False	Brain structure	Inferred relationship	Some	4
Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterized by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and fetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia.	Finding site	False	Brain structure	Inferred relationship	Some	3
A rare syndromic form of lissencephaly characterized by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. The syndrome may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and fetal akinesia sequence.	Finding site	False	Brain structure	Inferred relationship	Some	4
Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.	Finding site	False	Brain structure	Inferred relationship	Some	3
Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit.	Finding site	False	Brain structure	Inferred relationship	Some	6
Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.	Finding site	False	Brain structure	Inferred relationship	Some	5
Microcephaly-cardiomyopathy syndrome is characterized by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive.	Finding site	False	Brain structure	Inferred relationship	Some	2
Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.	Finding site	False	Brain structure	Inferred relationship	Some	3
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome	Finding site	False	Brain structure	Inferred relationship	Some	5
Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait.	Finding site	False	Brain structure	Inferred relationship	Some	8
Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983.	Finding site	False	Brain structure	Inferred relationship	Some	4
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.	Finding site	False	Brain structure	Inferred relationship	Some	12
A rare, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, psychomotor developmental delay, generalized seizures, and psoriasis. Mild craniofacial dysmorphism, such as hypertelorism, broad nasal bridge, anteverted nares, macrostomia, highly arched palate and large ears, is also associated. There have been no further descriptions in the literature since 1988.	Finding site	True	Brain structure	Inferred relationship	Some	2
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.	Finding site	False	Brain structure	Inferred relationship	Some	7
Anencephaly without rachischisis (disorder)	Finding site	False	Brain structure	Inferred relationship	Some	2
A multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth.	Finding site	False	Brain structure	Inferred relationship	Some	2
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	5
A multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth.	Finding site	False	Brain structure	Inferred relationship	Some	3
A lysosomal storage disease belonging to the group of sphingolipidoses.	Finding site	True	Brain structure	Inferred relationship	Some	1
Filippi syndrome is characterized by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.	Finding site	False	Brain structure	Inferred relationship	Some	5
Magnetic resonance imaging of brain without contrast (procedure)	Procedure site - Direct (attribute)	True	Brain structure	Inferred relationship	Some	1
Sedative, hypnotic AND/OR anxiolytic-induced persisting amnestic disorder	Finding site	False	Brain structure	Inferred relationship	Some	2
Brain contusion with open intracranial wound, with more than 1 hour loss of consciousness	Finding site	False	Brain structure	Inferred relationship	Some	2
Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaphyseal dysplasia and severe intellectual deficit.	Finding site	False	Brain structure	Inferred relationship	Some	6
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine growth retardation, multiple congenital malformations (such as brain malformations including ectopic neuro-pituitary gland, hypoplastic adenopituitary, and hypoplastic cerebellar vermis, cardiac and renal anomalies, and postaxial polydactyly), abnormal hair structure with temporal balding, and dysmorphic facial features with hypoplastic nasal bridge, anteverted nostrils, dysplastic ears, long and smooth philtrum, narrow upper lip, and prominent, asymmetric lower lip. Postnatal growth retardation and severe developmental delay have also been reported.	Finding site	False	Brain structure	Inferred relationship	Some	6
Encephalopathy caused by methylmercury	Finding site	False	Brain structure	Inferred relationship	Some	1
Central neurocytoma of brain (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, developmental delay and intellectual disability, postnatal growth retardation, dysmorphic craniofacial features (including sloping forehead, beaked nose, large and protruding ears, micrognathia, high-arched palate, and craniosynostosis), immunologic abnormalities with transient hypogammaglobulinemia in infancy and defective chemotaxis leading to recurrent infections, as well as autoimmune/autoinflammatory phenomena. Skeletal anomalies and hypogonadism have also been reported.	Finding site	False	Brain structure	Inferred relationship	Some	3
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine growth retardation, multiple congenital malformations (such as brain malformations including ectopic neuro-pituitary gland, hypoplastic adenopituitary, and hypoplastic cerebellar vermis, cardiac and renal anomalies, and postaxial polydactyly), abnormal hair structure with temporal balding, and dysmorphic facial features with hypoplastic nasal bridge, anteverted nostrils, dysplastic ears, long and smooth philtrum, narrow upper lip, and prominent, asymmetric lower lip. Postnatal growth retardation and severe developmental delay have also been reported.	Finding site	True	Brain structure	Inferred relationship	Some	4
Positron emission tomography with computed tomography of brain using flutemetamol (18-F)	Procedure site - Direct (attribute)	True	Brain structure	Inferred relationship	Some	2
Positron emission tomography with computed tomography of brain using flutemetamol (18-F)	Procedure site - Direct (attribute)	True	Brain structure	Inferred relationship	Some	3
Non-traumatic cerebral edema (disorder)	Finding site	False	Brain structure	Inferred relationship	Some	1
Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations.	Finding site	False	Brain structure	Inferred relationship	Some	5
Magnetic resonance imaging of brain and internal auditory canal without contrast (procedure)	Procedure site - Direct (attribute)	True	Brain structure	Inferred relationship	Some	2
Magnetic resonance imaging of brain and facial bones without contrast (procedure)	Procedure site - Direct (attribute)	True	Brain structure	Inferred relationship	Some	2
Magnetic resonance imaging of brain with contrast (procedure)	Procedure site - Direct (attribute)	True	Brain structure	Inferred relationship	Some	1
Magnetic resonance imaging of brain and cervical spinal cord without contrast (procedure)	Procedure site - Direct (attribute)	True	Brain structure	Inferred relationship	Some	3
Crush injury of brain (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
A rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.	Finding site	False	Brain structure	Inferred relationship	Some	3
Single photon emission computed tomography of brain (procedure)	Procedure site - Direct (attribute)	True	Brain structure	Inferred relationship	Some	1
A rare, genetic, syndromic intellectual disability characterized by severe intellectual disability, distinctive craniofacial features and variable multiple congenital anomalies including ocular, brain, urogenital and skeletal abnormalities.	Finding site	False	Brain structure	Inferred relationship	Some	3
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	False	Brain structure	Inferred relationship	Some
Congenital intrauterine infection-like syndrome is characterized by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.	Finding site	False	Brain structure	Inferred relationship	Some	3
Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities.	Finding site	False	Brain structure	Inferred relationship	Some	4
Congenital intrauterine infection-like syndrome is characterized by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.	Finding site	False	Brain structure	Inferred relationship	Some	2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others.	Finding site	False	Brain structure	Inferred relationship	Some	3
GM3 synthase deficiency is a rare congenital disorder of glycosylation due to impaired synthesis of complex ganglioside species initially characterized by irritability, poor feeding, failure to thrive and early-onset refractory epilepsy, followed by postnatal growth impairment, severe developmental delay or developmental regression, profound intellectual disability, deafness and abnormalities of skin pigmentation (mostly freckle-like hyperpigmented and depigmented macules). Visual impairment due to cortical atrophy (visible on magnetic resonance imaging), choreoathetosis and hypotonic tetraparesis usually appear gradually. Dysmorphic facial features may be associated.	Finding site	True	Brain structure	Inferred relationship	Some	2
Magnetic resonance spectroscopy of brain without contrast (procedure)	Procedure site - Direct (attribute)	True	Brain structure	Inferred relationship	Some	2
Magnetic resonance spectroscopy of brain without contrast (procedure)	Procedure site - Direct (attribute)	True	Brain structure	Inferred relationship	Some	3
A rare genetic disease characterized by the association of epilepsy, ataxia, sensorineural hearing impairment, and renal tubulopathy. Patients present in infancy with generalized seizures, cerebellar dysfunction (including gait ataxia, intention tremor, and dysdiadochokinesis), and variable developmental delay and sensorineural hearing loss. Laboratory studies show persistent hypokalemic metabolic acidosis with hypomagnesemia. Additional reported neurologic features include brisk deep tendon reflexes, ankle clonus, extensor plantar responses, or nystagmus.	Finding site	True	Brain structure	Inferred relationship	Some	1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, osteogenesis imperfecta, presence of wormian bones, seizures, ocular abnormalities (blue sclerae, optic atrophy, retinal detachment), and dysmorphic facial features (including frontal bossing, low anterior hairline, medial flare of the eyebrows, long eyelashes, hypertelorism, depressed nasal bridge, and low-set, large ears). There have been no further descriptions in the literature since 1994.	Finding site	False	Brain structure	Inferred relationship	Some
Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.	Finding site	False	Brain structure	Inferred relationship	Some	2
A rare syndromic agammaglobulinaemia characterised by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinaemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others.	Finding site	False	Brain structure	Inferred relationship	Some	6
A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported.	Finding site	False	Brain structure	Inferred relationship	Some	9
Fetal or neonatal intracerebral non-traumatic hemorrhage	Finding site	False	Brain structure	Inferred relationship	Some	1
Radiation injury of brain caused by ionizing radiation following radiotherapy procedure	Finding site	False	Brain structure	Inferred relationship	Some	2
Delirium caused by substance or medication	Finding site	False	Brain structure	Inferred relationship	Some	1
Amnestic disorder caused by substance	Finding site	False	Brain structure	Inferred relationship	Some	1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum).	Finding site	False	Brain structure	Inferred relationship	Some	7
A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993.	Finding site	False	Brain structure	Inferred relationship	Some	4
Contusion of brain due to birth trauma (disorder)	Finding site	False	Brain structure	Inferred relationship	Some	2
Neonatal compression of brain (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
Dementia co-occurrent and due to neurocysticercosis (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	3
Toxic dementia (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
Dementia due to metabolic abnormality (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	3
Dementia due to chromosomal anomaly (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	3
Positron emission tomography with computed tomography of brain using florbetaben (18-F) (procedure)	Procedure site - Direct (attribute)	True	Brain structure	Inferred relationship	Some	2
Positron emission tomography with computed tomography of brain using florbetaben (18-F) (procedure)	Procedure site - Direct (attribute)	True	Brain structure	Inferred relationship	Some	3
Primary progressive apraxia of speech (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
Crush injury of brain without coma	Finding site	False	Brain structure	Inferred relationship	Some	1
Permanent vegetative state (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	2
Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.	Finding site	True	Brain structure	Inferred relationship	Some	1
Familial acute necrotising encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen.	Finding site	True	Brain structure	Inferred relationship	Some	1
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, intellectual disability, seizures, and congenital heart defects (e.g. atrial/ventricular septal defect, hypoplastic aortic arch with persistent ductus arteriosus). Additional manifestations include mild hypothyroidism, skeletal abnormalities, micropenis, delayed psychomotor development, dysmorphic facial features (including epicanthus, depressed nasal bridge, prominent antitragus), and pulmonary vascular occlusive disease. There have been no further descriptions in the literature since 1989.	Finding site	True	Brain structure	Inferred relationship	Some	4
Positron emission tomography with computed tomography of brain (procedure)	Procedure site - Direct (attribute)	True	Brain structure	Inferred relationship	Some	2
Positron emission tomography with computed tomography of brain (procedure)	Procedure site - Direct (attribute)	True	Brain structure	Inferred relationship	Some	3
Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case.	Finding site	False	Brain structure	Inferred relationship	Some	4
Thiamine-responsive encephalopathy is a Wernicke-like encephalopathy characterized by seizures responsive to high doses of thiamine.	Finding site	True	Brain structure	Inferred relationship	Some	1
Rapidly progressive dementia (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	2
Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterised by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses etc.).	Finding site	False	Brain structure	Inferred relationship	Some	4
Renier Gabreels Jasper syndrome	Finding site	False	Brain structure	Inferred relationship	Some	2
Renier Gabreels Jasper syndrome	Finding site	False	Brain structure	Inferred relationship	Some	3
Psychotic disorder caused by alcohol with schizophreniform symptoms (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
Mood disorder with depressive symptoms caused by alcohol	Finding site	False	Brain structure	Inferred relationship	Some	1
Mood disorder with manic symptoms caused by alcohol	Finding site	False	Brain structure	Inferred relationship	Some	1
Mood disorder with mixed manic and depressive symptoms caused by alcohol	Finding site	False	Brain structure	Inferred relationship	Some	1
Psychotic disorder caused by cannabis (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
Sleep disorder caused by cannabis (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
Fetal anencephaly (disorder)	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	2
Anencephaly without rachischisis (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.	Finding site	True	Brain structure	Inferred relationship	Some	4
Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.	Finding site	True	Brain structure	Inferred relationship	Some	1
A rare disorder characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.	Finding site	False	Brain structure	Inferred relationship	Some	4
Hepatic coma due to viral hepatitis C (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	3
Infection causing multiple abscesses of brain (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
Encephalopathy due to nutritional deficiency (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
A rare, severe, primary bone dysplasia characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies.	Finding site	False	Brain structure	Inferred relationship	Some	2
Delirium co-occurrent with dementia (disorder)	Finding site	True	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