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
Mood disorder with depressive symptoms caused by opioid	Finding site	True	Brain structure	Inferred relationship	Some	1
Mood disorder with mixed depressive and manic symptoms caused by opioid (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
Delirium caused by stimulant	Finding site	True	Brain structure	Inferred relationship	Some	1
Psychotic disorder caused by stimulant (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
Psychotic disorder with hallucinations caused by stimulant	Finding site	True	Brain structure	Inferred relationship	Some	1
Psychotic disorder with delusions caused by stimulant	Finding site	True	Brain structure	Inferred relationship	Some	1
Mood disorder caused by stimulant (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
Mood disorder with depressive symptoms caused by stimulant	Finding site	True	Brain structure	Inferred relationship	Some	1
Mood disorder with mixed depressive and manic symptoms caused by stimulant	Finding site	True	Brain structure	Inferred relationship	Some	1
Anxiety disorder caused by stimulant	Finding site	False	Brain structure	Inferred relationship	Some	2
Mood disorder with manic symptoms caused by hallucinogen (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
Mood disorder with depressive symptoms caused by hallucinogen (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
Mood disorder with mixed depressive and manic symptoms caused by hallucinogen	Finding site	True	Brain structure	Inferred relationship	Some	1
Mood disorder with manic symptoms caused by volatile inhalant (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	2
Mood disorder with depressive symptoms caused by volatile inhalant	Finding site	True	Brain structure	Inferred relationship	Some	2
Mood disorder with mixed depressive and manic symptoms caused by volatile inhalant	Finding site	True	Brain structure	Inferred relationship	Some	2
Mood disorder with manic symptoms caused by ecstasy type drug	Finding site	False	Brain structure	Inferred relationship	Some	1
Mood disorder with depressive symptoms caused by ecstasy type drug	Finding site	False	Brain structure	Inferred relationship	Some	1
Mood disorder with mixed depressive and manic symptoms caused by ecstasy type drug	Finding site	False	Brain structure	Inferred relationship	Some	1
Mood disorder with manic symptoms caused by dissociative drug (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
Mood disorder with depressive symptoms caused by dissociative drug	Finding site	True	Brain structure	Inferred relationship	Some	1
Mood disorder with mixed depressive and manic symptoms caused by dissociative drug	Finding site	True	Brain structure	Inferred relationship	Some	1
Dementia due to prion disease	Finding site	True	Brain structure	Inferred relationship	Some	3
Dementia due to and following injury of head (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	2
Delirium caused by synthetic cathinone	Finding site	True	Brain structure	Inferred relationship	Some	2
Psychotic disorder caused by synthetic cathinone (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	2
Psychotic disorder with hallucinations caused by synthetic cathinone (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	2
Psychotic disorder with delusions caused by synthetic cathinone	Finding site	True	Brain structure	Inferred relationship	Some	2
Psychotic disorder with schizophreniform symptoms caused by synthetic cathinone (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	2
Mood disorder caused by synthetic cathinone	Finding site	True	Brain structure	Inferred relationship	Some	2
Mood disorder with depressive symptoms caused by synthetic cathinone (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	2
Mood disorder with manic symptoms caused by synthetic cathinone	Finding site	True	Brain structure	Inferred relationship	Some	2
Mood disorder with mixed depressive and manic symptoms caused by synthetic cathinone	Finding site	True	Brain structure	Inferred relationship	Some	2
Anxiety disorder caused by synthetic cathinone	Finding site	True	Brain structure	Inferred relationship	Some	3
Obsessive compulsive disorder caused by synthetic cathinone (disorder)	Finding site	False	Brain structure	Inferred relationship	Some	4
Synthetic cathinone withdrawal	Finding site	False	Brain structure	Inferred relationship	Some	2
Subcortical dementia (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	2
Mood disorder with manic symptoms caused by volatile inhalant (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
Mood disorder with depressive symptoms caused by volatile inhalant	Finding site	True	Brain structure	Inferred relationship	Some	1
Mood disorder with mixed depressive and manic symptoms caused by volatile inhalant	Finding site	True	Brain structure	Inferred relationship	Some	1
Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly.	Finding site	True	Brain structure	Inferred relationship	Some	1
Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases.	Finding site	True	Brain structure	Inferred relationship	Some	1
Coordinate convulsion	Finding site	False	Brain structure	Inferred relationship	Some	1
Clonic seizure	Finding site	False	Brain structure	Inferred relationship	Some	1
Puerperal convulsion	Finding site	True	Brain structure	Inferred relationship	Some	1
Salaam spasm	Finding site	False	Brain structure	Inferred relationship	Some	1
Stress seizure	Finding site	True	Brain structure	Inferred relationship	Some	1
Movement partial seizure	Finding site	False	Brain structure	Inferred relationship	Some	1
Secondarily generalized seizures	Finding site	False	Brain structure	Inferred relationship	Some	1
Akinetic seizure without atonia	Finding site	False	Brain structure	Inferred relationship	Some	1
Febrile convulsion	Finding site	True	Brain structure	Inferred relationship	Some	2
Uremic convulsion	Finding site	True	Brain structure	Inferred relationship	Some	1
Startle partial seizure	Finding site	True	Brain structure	Inferred relationship	Some	1
Tonic-clonic seizure	Finding site	False	Brain structure	Inferred relationship	Some	1
Central convulsion	Finding site	True	Brain structure	Inferred relationship	Some	1
Brief atonic seizure	Finding site	False	Brain structure	Inferred relationship	Some	1
Pattern sensitive seizure	Finding site	True	Brain structure	Inferred relationship	Some	1
Todd's paresis	Finding site	True	Brain structure	Inferred relationship	Some	2
Tetanic convulsion	Finding site	True	Brain structure	Inferred relationship	Some	1
Epileptic cry	Finding site	True	Brain structure	Inferred relationship	Some	1
Ideational partial seizure	Finding site	False	Brain structure	Inferred relationship	Some	1
Abdominal seizure	Finding site	False	Brain structure	Inferred relationship	Some	1
Long atonic seizure	Finding site	False	Brain structure	Inferred relationship	Some	1
Seizure	Finding site	True	Brain structure	Inferred relationship	Some	1
On examination - fit/convulsion	Finding site	False	Brain structure	Inferred relationship	Some	1
On examination - grand mal fit	Finding site	False	Brain structure	Inferred relationship	Some	1
On examination - febrile convulsion	Finding site	False	Brain structure	Inferred relationship	Some	2
An epileptic seizure originating at some point within, and rapidly engaging, bilaterally distributed hemispheric networks.	Finding site	True	Brain structure	Inferred relationship	Some	1
Seizure undetermined whether focal or generalized	Finding site	False	Brain structure	Inferred relationship	Some	1
Recurrent febrile convulsion	Finding site	True	Brain structure	Inferred relationship	Some	3
Eclamptic seizure (finding)	Finding site	True	Brain structure	Inferred relationship	Some	2
Simple febrile seizure (finding)	Finding site	True	Brain structure	Inferred relationship	Some	2
Complex febrile seizure (finding)	Finding site	True	Brain structure	Inferred relationship	Some	2
Seizure after head injury (finding)	Finding site	True	Brain structure	Inferred relationship	Some	2
Afebrile seizure	Finding site	False	Brain structure	Inferred relationship	Some	1
Single seizure	Finding site	False	Brain structure	Inferred relationship	Some	1
Single seizure due to remote cause	Finding site	False	Brain structure	Inferred relationship	Some	1
Single unprovoked seizure	Finding site	False	Brain structure	Inferred relationship	Some	1
Positron emission tomography of brain using fluorodeoxyglucose (18-F) (procedure)	Procedure site - Direct (attribute)	True	Brain structure	Inferred relationship	Some	1
Positron emission tomography of brain	Procedure site - Direct (attribute)	True	Brain structure	Inferred relationship	Some	1
Positron emission tomography of brain using fluorodopa (18-F) (procedure)	Procedure site - Direct (attribute)	True	Brain structure	Inferred relationship	Some	1
Positron emission tomography of brain using Fluorocholine (18-F) (procedure)	Procedure site - Direct (attribute)	True	Brain structure	Inferred relationship	Some	1
A rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.	Finding site	True	Brain structure	Inferred relationship	Some	2
Syncope followed by tonic or tonic-clonic movements due to cortical depression and not as a result of a cortical electrical seizure	Finding site	True	Brain structure	Inferred relationship	Some	4
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.	Finding site	True	Brain structure	Inferred relationship	Some	2
A rare, hereditary inborn error of metabolism characterized by an acute onset of encephalopathy in infancy or early childhood. Apart from these episodic acute events, the disorder shows a relatively benign course. Multiple metabolic abnormalities are present, including metabolic acidosis, respiratory alkalosis, hypoglycemia, increased serum lactate and alanine.	Finding site	False	Brain structure	Inferred relationship	Some	1
Positron emission tomography with computed tomography of brain using fluorodeoxyglucose (18-F)	Procedure site - Direct (attribute)	True	Brain structure	Inferred relationship	Some	1
Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.	Finding site	True	Brain structure	Inferred relationship	Some	1
Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.	Finding site	True	Brain structure	Inferred relationship	Some	1
A rare mitochondrial DNA depletion syndrome characterized by neonatal or infantile onset of hypotonia, failure to thrive, global developmental delay, and persistent lactic acidosis. The disease course is variable and ranges from intractable diarrhea and respiratory failure with fatal outcome in early infancy to a milder phenotype with survival into childhood. Additional reported features include sensorineural hearing loss, microcephaly, seizures, pigmentary retinopathy, and renal tubulopathy.	Finding site	True	Brain structure	Inferred relationship	Some	1
Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.	Finding site	False	Brain structure	Inferred relationship	Some	4
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.	Finding site	False	Brain structure	Inferred relationship	Some	1
Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis.	Finding site	False	Brain structure	Inferred relationship	Some	1
Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterised by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed.	Finding site	True	Brain structure	Inferred relationship	Some	1
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.	Finding site	True	Brain structure	Inferred relationship	Some	1
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound.	Finding site	True	Brain structure	Inferred relationship	Some	2
Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadias, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed.	Finding site	False	Brain structure	Inferred relationship	Some	2
Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.	Finding site	False	Brain structure	Inferred relationship	Some	1
Asphyxiophilia (disorder)	Finding site	True	Brain structure	Inferred relationship	Some	1
Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.	Finding site	True	Brain structure	Inferred relationship	Some	1
A severe disease with onset in infancy primarily associated with brain dysfunction combined with muscle weakness. Symptoms include hypotonia, failure to thrive, delayed development of mental and motor skills, severely impaired speech development, seizures, movement abnormalities, microcephaly and cerebral atrophy. All individuals with the disease have lactic acidosis. Also associated with congenital heart defects or arrhythmias, vision problems, hearing loss, hepatopathy and immune deficiency. Caused by mutation in the FBXL4 gene responsible for producing a protein found within mitochondria. Inherited in an autosomal recessive pattern.	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