81308009: Disorder of brain (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)

\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Disorder of brain (disorder)	Is a	Disorder of head (disorder)	true	Inferred relationship	Some
Disorder of brain (disorder)	Is a	Disorder of the central nervous system (disorder)	true	Inferred relationship	Some
Disorder of brain (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	1
Disorder of brain (disorder)	Is a	Disorder of body cavity (disorder)	false	Inferred relationship	Some
Disorder of brain (disorder)	Is a	Finding of brain	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Nodular heterotopia	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
Atrophy of corpus callosum	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
Medulloblastoma (disorder)	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
Rabies coma	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
Rabies - hydrophobia	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
Thogoto virus disease	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
Legionella encephalopathy	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
Oropouche virus disease	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
Cerebral loiasis	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
Cerebral gnathostomiasis	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
Cysticercosis of brain	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
Cerebral cryptococcosis	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
Tuberculoma of brain	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
Listeria cerebritis	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
Encephalopathy caused by Influenza A virus (disorder)	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
Cerebral pseudoatrophy (disorder)	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Cavernous hemangioma of brain (disorder)	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation.	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
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.	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness.	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
A lysosomal storage disease belonging to the group of sphingolipidoses.	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Circumscribed atrophy of brain	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
A rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter.	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
Encephalopathy caused by methylmercury	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
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.	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
Primary progressive apraxia of speech (disorder)	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
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.	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Thiamine-responsive encephalopathy is a Wernicke-like encephalopathy characterized by seizures responsive to high doses of thiamine.	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
White matter disease (disorder)	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
A rare syndromic intellectual disability characterized by severe intellectual disability and calcification of the choroid plexus, associated with elevated cerebrospinal fluid protein concentration. Additional signs and symptoms include strabismus, increased deep tendon reflexes, and foot deformities, among others. There have been no further descriptions in the literature since 1993.	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
Cerebral ischemic stroke due to small artery occlusion (disorder)	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
Cerebral ischemic stroke due to intracranial large artery atherosclerosis (disorder)	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
Cerebral ischemic stroke due to extracranial large artery atherosclerosis (disorder)	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
Encephalopathy due to nutritional deficiency (disorder)	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Post cerebral ventricular shunt leak	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
A rare syndromic renal disorder characterized by renal, neurologic and thyroid disease, associated with thrombocytopenia. There have been no further descriptions in the literature since 1978.	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Encephalopathy due to and following cardiopulmonary bypass	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Cerebral folate transport deficiency (disorder)	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Seizure co-occurrent and due to drug withdrawal	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
Synthetic cathinone withdrawal	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
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.	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
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.	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Encephalomalacia	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Cerebral herniation	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Chronic brain syndrome	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Borries' syndrome	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Bruns' syndrome	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Hypothermia-sweating syndrome	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Wernicke's disease (disorder)	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Temporal lobectomy behavior syndrome	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Pseudoporencephaly	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Bing-Neel syndrome	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Rud's syndrome	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Syringoencephalia	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Neonatal encephalopathy	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Leigh's disease	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
Aphasia-left parietal lobe syndrome	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Infantile encephalopathy AND lactic acidosis	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Ferro-cerebro-cutaneous syndrome is a rare, genetic, metabolic liver disease characterized by progressive neurodegeneration, cutaneous abnormalities, including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations, including microdontia, widely spaced and pointed teeth with delayed eruption, and gingival overgrowth.	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
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).	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
A rare, genetic, mitochondrial DNA depletion syndrome characterized by neonatal or early-infantile onset hepatopathy (manifesting with hepatomegaly, cholestasis, increased transaminases, coagulopathy, hypoalbuminemia, ascites, and/or liver failure), associated with renal tubulopathy and progressive neurodegenerative manifestations, which include muscular atrophy, hyporeflexia, ataxia, sensory neuropathy, epilepsy, sensorineural hearing impairment, psychomotor regression, athetosis, nystagmus, and/or ophthalmoplegia. Patients typically present with recurrent vomiting, severe failure to thrive, feeding difficulties, and fasting hypoglycemia.	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Thrombosis of inferior sagittal sinus	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
Embolism lateral sinus	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
Embolism transverse sinus	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
thrombose du sinus transverse	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
Phlebitis transverse sinus	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
Cerebral venous thrombosis of great cerebral vein	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
Thrombosis of lateral venous sinus	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
Thrombophlebitis lateral venous sinus	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
Phlebitis of inferior sagittal sinus (disorder)	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
PPM-X syndrome	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
Limbic disorder	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Embolism of inferior sagittal sinus	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
Embolism of lateral venous sinus	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
Phlebitis of lateral venous sinus	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Coma due to diabetes mellitus (disorder)	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Encephalopathy due to COVID-19	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Fetal anencephaly (disorder)	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Stokes-Adams attack	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
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.	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Entrapment of inferior horn of lateral ventricle	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
A rare mitochondrial oxidative phosphorylation disorder characterized by a variable clinical phenotype including infantile onset of epileptic encephalopathy, hypotonia, global developmental delay, failure to thrive, complex movement disorder, and liver involvement, as well as childhood onset of severe myoclonus epilepsy, cognitive decline, progressive hearing and visual impairment, and progressive tetraparesis. Serum lactate may be increased, and brain imaging shows variable atrophy and white matter abnormalities.	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Organophosphate encephalopathy	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Disorder of brain caused by arsenic (disorder)	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Carbon monoxide encephalopathy	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Postconcussion syndrome	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Lesion of brain	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Psychogenic syncope (disorder)	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia.	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis.	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Leak of cranial cerebrospinal fluid (disorder)	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Hyperplasia of choroid plexus (disorder)	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Encephalocele	Is a	False	Disorder of brain (disorder)	Inferred relationship	Some
Disorder of pituitary gland	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
A rare genetic neurological disorder characterized by a phenotypic spectrum of mild to severe developmental delay and hypotonia, variably associated with intellectual disability, early-onset seizures, and movement disorders, such as dystonia, ataxia, chorea, and dyskinesia. Brain imaging may show delayed myelination, thin corpus callosum, or cerebral atrophy.	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Aphasia-angular gyrus syndrome	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Disorder of brain due to and following radiotherapy (disorder)	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Senile brain amyloidosis	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some
Cerebral non-neuropathic heredofamilial amyloidosis angiopathy	Is a	True	Disorder of brain (disorder)	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
134883013	Encephalopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2468949010	Disorder of brain (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2474931015	Disorder of brain	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
195031000077112	affection encéphalique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
575301000172110	affection du cerveau	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
611041000172111	trouble du cerveau	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
851461000241113	encéphalopathie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module