22811006: Leukoencephalopathy (disorder)

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

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

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

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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Leukoencephalopathy	Is a	Disorder of brain (disorder)	true	Inferred relationship	Some
Leukoencephalopathy	Finding site	Cerebral white matter structure	true	Inferred relationship	Some	1
Leukoencephalopathy	Is a	Finding of head region	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Subacute hemorrhagic leukoencephalitis	Is a	False	Leukoencephalopathy	Inferred relationship	Some
Progressive multifocal leukoencephalopathy	Is a	False	Leukoencephalopathy	Inferred relationship	Some
Acute hemorrhagic leukoencephalitis	Is a	True	Leukoencephalopathy	Inferred relationship	Some
Subcortical leukoencephalopathy	Is a	False	Leukoencephalopathy	Inferred relationship	Some
Van Bogaert's sclerosing leukoencephalitis	Is a	False	Leukoencephalopathy	Inferred relationship	Some
Posterior reversible encephalopathy syndrome	Is a	True	Leukoencephalopathy	Inferred relationship	Some
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)	Is a	True	Leukoencephalopathy	Inferred relationship	Some
Hypomyelination and congenital cataract	Is a	True	Leukoencephalopathy	Inferred relationship	Some
Hereditary diffuse leukoencephalopathy with spheroids (disorder)	Is a	True	Leukoencephalopathy	Inferred relationship	Some
Megalencephalic leukoencephalopathy with subcortical cysts	Is a	True	Leukoencephalopathy	Inferred relationship	Some
Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.	Is a	True	Leukoencephalopathy	Inferred relationship	Some
A rare leukoencephalopathy characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability.	Is a	True	Leukoencephalopathy	Inferred relationship	Some
A rare, nonprogressive, neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested.	Is a	True	Leukoencephalopathy	Inferred relationship	Some
A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive.	Is a	True	Leukoencephalopathy	Inferred relationship	Some
Cystic leukoencephalopathy without megalencephaly is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.	Is a	True	Leukoencephalopathy	Inferred relationship	Some
White matter disorder caused by infection (disorder)	Is a	True	Leukoencephalopathy	Inferred relationship	Some
Toxic leukoencephalopathy (disorder)	Is a	True	Leukoencephalopathy	Inferred relationship	Some
White matter disorder co-occurrent and due to cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (disorder)	Is a	True	Leukoencephalopathy	Inferred relationship	Some
Leukoencephalopathy-dystonia-motor neuropathy syndrome is a peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.	Is a	True	Leukoencephalopathy	Inferred relationship	Some
This disease is characterized by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.	Is a	True	Leukoencephalopathy	Inferred relationship	Some
White matter disorder due to vascular abnormality	Is a	True	Leukoencephalopathy	Inferred relationship	Some
White matter disorder due to vitamin B12 deficiency	Is a	True	Leukoencephalopathy	Inferred relationship	Some
A rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (including extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.	Is a	True	Leukoencephalopathy	Inferred relationship	Some
A rare neurologic disease characterized by a specific pattern of white matter abnormalities on brain imaging (magnetic resonance imaging), as well as mild ataxia, headaches, mild visual impairment, learning difficulties and cases of male infertility.	Is a	True	Leukoencephalopathy	Inferred relationship	Some
Disorder of optic radiation	Is a	True	Leukoencephalopathy	Inferred relationship	Some
Traumatic hemorrhage of cerebral white matter (disorder)	Is a	True	Leukoencephalopathy	Inferred relationship	Some
Ectopic gray matter in centrum ovale	Is a	True	Leukoencephalopathy	Inferred relationship	Some
Abscess of corpus callosum (disorder)	Is a	True	Leukoencephalopathy	Inferred relationship	Some
Internal capsule hemorrhage	Is a	True	Leukoencephalopathy	Inferred relationship	Some
Corpus callosum syndrome	Is a	True	Leukoencephalopathy	Inferred relationship	Some
White matter disease (disorder)	Is a	True	Leukoencephalopathy	Inferred relationship	Some
External capsule hemorrhage	Is a	True	Leukoencephalopathy	Inferred relationship	Some
Aplasia of corpus callosum	Is a	False	Leukoencephalopathy	Inferred relationship	Some
Malignant neoplasm of corpus callosum	Is a	True	Leukoencephalopathy	Inferred relationship	Some
Congenital malformation of corpus callosum	Is a	True	Leukoencephalopathy	Inferred relationship	Some
Atrophy of corpus callosum	Is a	True	Leukoencephalopathy	Inferred relationship	Some
Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration.	Is a	True	Leukoencephalopathy	Inferred relationship	Some
A rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures.	Is a	True	Leukoencephalopathy	Inferred relationship	Some
A rare genetic neurological disorder characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.	Is a	True	Leukoencephalopathy	Inferred relationship	Some
A rare genetic cerebral small vessel disease characterized by progressive loss of visual acuity due to retinal vasculopathy, in combination with more variable neurological signs and symptoms including stroke, cognitive decline, migraine-like headaches, and seizures, among others, typically beginning in middle age. Psychiatric features such as depression and anxiety may also occur. Systemic vascular involvement with Raynaud phenomenon, micronodular liver cirrhosis, and glomerular kidney dysfunction is present in a subset of patients.	Is a	True	Leukoencephalopathy	Inferred relationship	Some
A rare, genetic, autosomal recessive spastic ataxia disease characterised by cerebellar ataxia, spasticity, cerebellar (and in some cases cerebral) atrophy, dystonia, and leucoencephalopathy.	Is a	True	Leukoencephalopathy	Inferred relationship	Some
Neuroaxonal leukodystrophy (disorder)	Is a	True	Leukoencephalopathy	Inferred relationship	Some
Periventricular leucomalacia	Is a	True	Leukoencephalopathy	Inferred relationship	Some
Periventricular hemorrhagic venous infarct (disorder)	Is a	True	Leukoencephalopathy	Inferred relationship	Some
A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), a recessive autosomal mode of inheritance, neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes foamy aspect.	Is a	True	Leukoencephalopathy	Inferred relationship	Some
A rare frontonasal dysplasia characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.	Is a	True	Leukoencephalopathy	Inferred relationship	Some
A rare genetic cerebral small vessel disease characterized by recurrent ischemic strokes, often with a predilection for the pons, with typical onset in the fourth or fifth decade of life. Patients present progressive cognitive and motor impairment with pyramidal, bulbar, and cerebellar symptoms, among others. Brain imaging shows multiple lacunar infarcts, typically with involvement of the pons, as well as variable leukoencephalopathy of the cerebral hemispheres.	Is a	True	Leukoencephalopathy	Inferred relationship	Some
A rare genetic cerebral small vessel disease characterized by leukoencephalopathy and cerebral calcification and cysts due to diffuse cerebral microangiopathy resulting in microcystic and macrocystic parenchymal degeneration. The condition can present at any age from early childhood to late adulthood and manifests as a progressive cerebral degeneration. Symptoms are variable, but restricted to the central nervous systems, and include, among others, slowing of cognitive performance, seizures, and movement disorder with a combination of pyramidal, extrapyramidal, and cerebellar features.	Is a	True	Leukoencephalopathy	Inferred relationship	Some
Leukoencephalopathy due to copper deficiency	Is a	True	Leukoencephalopathy	Inferred relationship	Some
A rare genetic cerebral small vessel disease characterized by an adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, sicca syndrome, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease.	Is a	True	Leukoencephalopathy	Inferred relationship	Some
A rare genetic neurological disorder characterized by infantile onset of progressive leukoencephalopathy, microcephaly, severe global developmental delay, and spasticity resulting in quadriparesis and posture deformation. Additional features include an abnormally exaggerated startle reflex, seizures, dystonia, and hypomimia or amimia, as well as progressive chest deformities and contractures of large and hyperextensibility of small joints, among others. Thin corpus callosum is a prominent feature in brain imaging, in addition to white matter abnormalities consistent with leukoencephalopathy.	Is a	True	Leukoencephalopathy	Inferred relationship	Some
A rare genetic neurological disorder characterized by pediatric onset of calcifying leukoencephalopathy and skeletal dysplasia. Reported structural brain abnormalities include agenesis of corpus callosum, ventriculomegaly, congenital hydrocephalus, pontocerebellar hypoplasia, periventricular calcifications, Dandy-Walker malformation and absence of microglia. Characteristic skeletal features include increased bone mineral density (reported in skull, pelvic bone and vertebrae), platyspondyly, and under-modeling of tubular bones with widened/radiolucent metaphysis and constricted/sclerotic diaphysis.	Is a	True	Leukoencephalopathy	Inferred relationship	Some
PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.	Is a	True	Leukoencephalopathy	Inferred relationship	Some
Delayed post-hypoxic leukoencephalopathy	Is a	True	Leukoencephalopathy	Inferred relationship	Some
Perinatal periventricular hemorrhage	Is a	True	Leukoencephalopathy	Inferred relationship	Some
A rare genetic neurological disorder characterised by congenital or early-onset sensorineural deafness and adult-onset progressive leucoencephalopathy. Progressive cognitive impairment and behavioural abnormalities are observed in the second or third decade of life, sometimes preceded by mild developmental delay and learning difficulties. Visual impairment in adult age has been reported. No central nervous system calcification is reported.	Is a	True	Leukoencephalopathy	Inferred relationship	Some
A rare neurometabolic disease characterized by acute, reversible, and sometimes recurrent neurologic deterioration (including drowsiness, hypotonia, dysarthria, and ataxia) during a febrile illness. The condition is associated with reversible leukoencephalopathy and persistently increased urinary excretion (and sometimes cerebrospinal fluid concentration) mainly of alpha-ketoglutarate and N-acetylaspartate.	Is a	True	Leukoencephalopathy	Inferred relationship	Some
A rare syndrome with combined immunodeficiency characterised by mild developmental delay, learning disability, failure to thrive, short stature, immunodeficiency leading to recurrent respiratory and skin infections, leucoencephalopathy, and hypohomocysteinaemia. Additional clinical features may include heart defects.	Is a	True	Leukoencephalopathy	Inferred relationship	Some
Congenital hypoplasia of cerebral white matter (disorder)	Is a	True	Leukoencephalopathy	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
38292013	Leukoencephalopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
752262010	Leukoencephalopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3789577018	Leucoencephalopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1813201000195115	leucoencefalopatia	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
275791000077117	leuco-encéphalopathie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
414041000274116	Leukenzephalopathie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module