192781003: Leukodystrophy (disorder)

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

\Neurological lesion\Leucodystrophy

\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Leucodystrophy

\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Leucodystrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Leucodystrophy

Status: current, Not 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
Leucodystrophy	Is a	System disorder of the nervous system (disorder)	false	Inferred relationship	Some
Leucodystrophy	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	1
Leucodystrophy	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Leucodystrophy	Associated morphology	Dystrophy	false	Inferred relationship	Some	1
Leucodystrophy	Associated morphology	Myelin sheath alteration	false	Inferred relationship	Some	1
Leucodystrophy	Is a	Neurological lesion	true	Inferred relationship	Some
Leucodystrophy	Is a	Degenerative disorder	false	Inferred relationship	Some
Leucodystrophy	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Some	1
Leucodystrophy	Associated morphology	Dystrophy	false	Inferred relationship	Some	1
Leucodystrophy	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	1
Leucodystrophy	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Some	1
Leucodystrophy	Finding site	White matter structure of brain and spinal cord (body structure)	true	Inferred relationship	Some	2
Leucodystrophy	Is a	Neuropathy (disorder)	true	Inferred relationship	Some
Leucodystrophy	Is a	Disorder of the central nervous system (disorder)	false	Inferred relationship	Some
Leucodystrophy	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
Leucodystrophy	Is a	Degenerative disease of the central nervous system	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Leucodystrophy NOS	Is a	False	Leucodystrophy	Inferred relationship	Some
Galactosylceramide beta-galactosidase deficiency	Is a	True	Leucodystrophy	Inferred relationship	Some
Neuroaxonal leukodystrophy (disorder)	Is a	True	Leucodystrophy	Inferred relationship	Some
Leucodystrophy without a known biochemical basis	Is a	False	Leucodystrophy	Inferred relationship	Some
Globoid cell leukodystrophy, late-onset	Is a	False	Leucodystrophy	Inferred relationship	Some
Dalmatian leukodystrophy	Is a	False	Leucodystrophy	Inferred relationship	Some
HSMN IV	Is a	True	Leucodystrophy	Inferred relationship	Some
Adult onset autosomal dominant leukodystrophy (disorder)	Is a	True	Leucodystrophy	Inferred relationship	Some
RNA polymerase III-related leukodystrophy	Is a	True	Leucodystrophy	Inferred relationship	Some
Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies.	Is a	True	Leucodystrophy	Inferred relationship	Some
Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease.	Is a	True	Leucodystrophy	Inferred relationship	Some
Cerebroretinal vasculopathy	Is a	False	Leucodystrophy	Inferred relationship	Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder)	Is a	False	Leucodystrophy	Inferred relationship	Some
Odontoleukodystrophy (disorder)	Is a	False	Leucodystrophy	Inferred relationship	Some
A rare, X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.	Is a	True	Leucodystrophy	Inferred relationship	Some
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.	Is a	False	Leucodystrophy	Inferred relationship	Some
A rare leukodystrophy characterized by congenital thickened, wrinkled skin showing loss of elasticity, in combination with childhood onset of rapidly progressive generalized cognitive and motor impairment quickly resulting in a vegetative state and early death. Neuropathologic examination reveals neuroaxonal leukodystrophy with numerous neuroaxonal spheroids and diffuse loss of axons and myelin sheaths.	Is a	True	Leucodystrophy	Inferred relationship	Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)	Is a	False	Leucodystrophy	Inferred relationship	Some
Peripheral demyelinating neuropathy-central dysmyelinating leucodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterised by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.	Is a	True	Leucodystrophy	Inferred relationship	Some
A disorder of the nervous system white matter and myelin resulting in hypomyelination and in some cases also demyelination. There are different combinations of signs and symptoms of the disease, at the most severe end of the spectrum is hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). At the mildest end is isolated hypomyelination. The features in other individuals with TUBB4A-related leukodystrophy fall in between these two extremes. The disease is caused by mutations in the TUBB4A gene, which provides instructions for making a protein called beta-tubulin. Inherited in an autosomal dominant pattern however most cases are the result of de novo mutations in the gene.	Is a	True	Leucodystrophy	Inferred relationship	Some
A rare genetic leukodystrophy characterized by diffuse hypomyelination in the supratentorial brain white matter, brain stem and spinal cord. Patients usually present nystagmus, lower limb spasticity, hypotonia, and motor developmental delay, as well as MRI signal abnormalities involving the corpus callosum, anterior brainstem, pyramidal tracts, superior and inferior cerebellar peduncles, dorsal columns and/or lateral corticospinal tracts.	Is a	True	Leucodystrophy	Inferred relationship	Some
A rare congenital muscular alpha-dystroglycanopathy with brain and eye anomalies disease characterized by a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease.	Is a	True	Leucodystrophy	Inferred relationship	Some
Metachromatic leucodystrophy, adult type	Is a	False	Leucodystrophy	Inferred relationship	Some
Pelizaeus-Merzbacher disease	Is a	True	Leucodystrophy	Inferred relationship	Some
Alexander disease	Is a	True	Leucodystrophy	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	Leucodystrophy	Inferred relationship	Some
A rare leukodystrophy characterized by infantile onset of lower limb spasticity and severe developmental delay associated with delayed myelination and periventricular white matter abnormalities. Other reported signs and symptoms include microcephaly, optic atrophy, nystagmus, ataxia, or seizures.	Is a	True	Leucodystrophy	Inferred relationship	Some
A rare genetic leukodystrophy identified in families of Ashkenazi Jewish descent, characterized by infancy onset of severe global developmental delay with very limited or absent speech and sometimes complete absence of motor development, hypotonia, spasticity, and acquired microcephaly. Seizures, hearing loss, visual impairment, and autonomic dysfunction have also been described. Brain imaging shows delayed myelination and other white matter abnormalities.	Is a	True	Leucodystrophy	Inferred relationship	Some
A rare, severe, genetic, neurometabolic disease characterized by infantile-onset of progressive neurodevelopmental regression, optic atrophy with nystagmus and diffuse white matter disease. Affected individuals usually have central hypotonia that progresses to limb spasticity and hyperreflexia, eventually resulting in a vegetative state. Recurrent chest infections are frequently associated and seizures (usually generalized tonic-clonic) may occasionally be observed. Brain magnetic resonance imaging shows diffuse bilateral symmetric abnormalities in the cerebral periventricular white matter, with variable lesions in other areas but sparing the basal ganglia.	Is a	True	Leucodystrophy	Inferred relationship	Some
A rare hypomyelinating leukodystrophy disorder characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms.	Is a	True	Leucodystrophy	Inferred relationship	Some
A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia, and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy, and diffuse spinal cord volume loss.	Is a	True	Leucodystrophy	Inferred relationship	Some
A rare mitochondrial disease characterized by a distinctive MRI pattern of cavitating leukodystrophy, predominantly in the posterior region of the cerebral hemispheres. The clinical picture varies widely between acute neurometabolic decompensation in infancy with loss of developmental milestones, seizures, and pyramidal signs rapidly evolving into spastic tetraparesis, to subtle neurological symptoms presenting in adolescence. The disease course tends to stabilize over time in most patients, and marked recovery of milestones may be observed.	Is a	True	Leucodystrophy	Inferred relationship	Some
A rare, genetic leukodystrophy characterized by developmental delay, increased muscle tone leading later to spasticity, mild ataxia, nystagmus, dysarthria, intentional tremor, and mild intellectual disability. Brain imaging reveals supratentorial and infratentorial hypomyelination.	Is a	True	Leucodystrophy	Inferred relationship	Some
A rare genetic leukodystrophy characterized by infantile onset of stagnation and regression of motor and language development resulting in complete lack of communication and purposeful movement. Further neurological manifestations include truncal hypotonia, appendicular spasticity, dystonia, optic disc pallor, peripheral neuropathy, and neurogenic bladder. Patients also present multiple contractures, late-onset relative macrocephaly, short stature, and facial dysmorphism (including coarse facial features, sloping forehead, thick eyebrows, low-set ears, prominent nose, flat philtrum, and prominent lower lip). Brain imaging at advanced stages shows diffuse abnormal white matter signal and severe atrophy. Sural nerve biopsy reveals decreased myelination.	Is a	True	Leucodystrophy	Inferred relationship	Some
Dementia due to leukodystrophy	Due to	True	Leucodystrophy	Inferred relationship	Some	3
Aicardi Goutieres syndrome	Is a	True	Leucodystrophy	Inferred relationship	Some
Adrenoleukodystrophy	Is a	True	Leucodystrophy	Inferred relationship	Some
Cholestanol storage disease	Is a	True	Leucodystrophy	Inferred relationship	Some
Spongy degeneration of central nervous system	Is a	True	Leucodystrophy	Inferred relationship	Some
Metachromatic leucodystrophy (disorder)	Is a	True	Leucodystrophy	Inferred relationship	Some
A rare mitochondrial disease characterized by early infantile onset of progressive neurological deterioration with seizures, spasticity, and lack of psychomotor development. Brain imaging shows severe leukodystrophy and abnormalities of neuronal migration. Lactic acidosis is common. The disease is usually fatal in early childhood.	Is a	True	Leucodystrophy	Inferred relationship	Some
A rare genetic neurometabolic disease characterised by microcephaly, short stature, epilepsy, cerebral hypomyelination, severe global developmental delay, and progressive spasticity. Macrocytic anaemia and hyperthermia have also been reported in association. Brain imaging reveals delayed myelination with minimal progression over time, mild cerebellar atrophy and/or thin corpus callosum.	Is a	True	Leucodystrophy	Inferred relationship	Some
A rare genetic neurological disorder with characteristics of hypomyelination of early myelinating structures such as the brainstem, cerebellar white matter, optic radiation, and periventricular white matter, while structures acquiring myelin later are better myelinated. Patients present in infancy with nystagmus, developmental delay, and progressive ataxic-spastic or ataxic syndrome. Cognitive functions are normal or only mildly impaired.	Is a	True	Leucodystrophy	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
296959019	Leucodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2470024014	Leukodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2788789012	Leukodystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
77171000077118	leucodystrophie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3387471001000115	Leukodystrophie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module