125495003: Myelin sheath alteration (morphologic abnormality)

SNOMED CT Concept\Body structure (body structure)\Morphologically altered structure\Morphologically abnormal structure\Lesion (morphologic abnormality)\Extracellular alteration\Myelin sheath alteration

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

193985010 Myelin sheath alteration en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

729331011 Myelin sheath alteration (morphologic abnormality) 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
Myelin sheath alteration	Is a	Extracellular alteration	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Galactosylceramide beta-galactosidase deficiency	Associated morphology	False	Myelin sheath alteration	Inferred relationship	Some	1
Schultz disease	Associated morphology	False	Myelin sheath alteration	Inferred relationship	Some	1
Neuroaxonal leukodystrophy (disorder)	Associated morphology	False	Myelin sheath alteration	Inferred relationship	Some	2
Type III transitional Pelizaeus-Merzbacher disease	Associated morphology	False	Myelin sheath alteration	Inferred relationship	Some	1
Type IV adult Pelizaeus-Merzbacher disease	Associated morphology	False	Myelin sheath alteration	Inferred relationship	Some	1
Type V atypical Pelizaeus-Merzbacher disease	Associated morphology	False	Myelin sheath alteration	Inferred relationship	Some	1
Type VI Cockayne Pelizaeus-Merzbacher disease	Associated morphology	False	Myelin sheath alteration	Inferred relationship	Some	1
Leucodystrophy without a known biochemical basis	Associated morphology	False	Myelin sheath alteration	Inferred relationship	Some	1
Globoid cell leukodystrophy, late-onset	Associated morphology	False	Myelin sheath alteration	Inferred relationship	Some	1
Dalmatian leukodystrophy	Associated morphology	False	Myelin sheath alteration	Inferred relationship	Some	2
Pelizaeus-Merzbacher disease, connatal variant	Associated morphology	False	Myelin sheath alteration	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease	Associated morphology	False	Myelin sheath alteration	Inferred relationship	Some	1
Alexander disease	Associated morphology	False	Myelin sheath alteration	Inferred relationship	Some	2
Pelizaeus-Merzbacher disease, classic form	Associated morphology	False	Myelin sheath alteration	Inferred relationship	Some	1
Leucodystrophy	Associated morphology	False	Myelin sheath alteration	Inferred relationship	Some	1
Leucodystrophy NOS	Associated morphology	False	Myelin sheath alteration	Inferred relationship	Some	1
HSMN IV	Associated morphology	False	Myelin sheath alteration	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease, connatal variant	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
HSMN IV	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
Neuroaxonal leukodystrophy (disorder)	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	2
Type V atypical Pelizaeus-Merzbacher disease	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
Type IV adult Pelizaeus-Merzbacher disease	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
Type III transitional Pelizaeus-Merzbacher disease	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
Globoid cell leukodystrophy, late-onset	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
Type VI Cockayne Pelizaeus-Merzbacher disease	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease, classic form	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
Leucodystrophy	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
Alexander disease	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	2
Schultz disease	Associated morphology	False	Myelin sheath alteration	Inferred relationship	Some	1
Dalmatian leukodystrophy	Associated morphology	False	Myelin sheath alteration	Inferred relationship	Some	2
Leucodystrophy without a known biochemical basis	Associated morphology	False	Myelin sheath alteration	Inferred relationship	Some	1
Leucodystrophy NOS	Associated morphology	False	Myelin sheath alteration	Inferred relationship	Some	1
Galactosylceramide beta-galactosidase deficiency	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
Adult onset autosomal dominant leukodystrophy (disorder)	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
Metachromatic leucodystrophy, adult type	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
RNA polymerase III-related leukodystrophy	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
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.	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease.	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
Cerebroretinal vasculopathy	Associated morphology	False	Myelin sheath alteration	Inferred relationship	Some	3
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder)	Associated morphology	False	Myelin sheath alteration	Inferred relationship	Some	6
Odontoleukodystrophy (disorder)	Associated morphology	False	Myelin sheath alteration	Inferred relationship	Some	3
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.	Associated morphology	False	Myelin sheath alteration	Inferred relationship	Some	6
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.	Associated morphology	False	Myelin sheath alteration	Inferred relationship	Some	6
Ataxia co-occurrent and due to phytanic acid storage disease (disorder)	Associated morphology	False	Myelin sheath alteration	Inferred relationship	Some	5
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.	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	2
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	2
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.	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	2
Odontoleukodystrophy (disorder)	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
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.	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
Cerebroretinal vasculopathy	Associated morphology	False	Myelin sheath alteration	Inferred relationship	Some	1
Ataxia co-occurrent and due to phytanic acid storage disease (disorder)	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	3
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.	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	2
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder)	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	3
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.	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	3
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.	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	2
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.	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
Galactocerebroside beta-galactosidase deficiency - early onset	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
Pelizaeus Merzbacher like disease due to HSPD1 mutation	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	2
Pelizaeus Merzbacher like disease due to SLC16A2 mutation (disorder)	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	2
Pelizaeus Merzbacher like disease due to AIMP1 mutation (disorder)	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	2
Pelizaeus Merzbacher like disease due to GJC2 mutation (disorder)	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	2
Pelizaeus-Merzbacher disease null syndrome	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease in female carrier	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
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.	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
Ovarioleukodystrophy	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
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.	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
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.	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
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.	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
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.	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
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.	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
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.	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
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.	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
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.	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
Alexander disease juvenile form	Associated morphology	False	Myelin sheath alteration	Inferred relationship	Some	1
Alexander disease type I (disorder)	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
Alexander disease adult form	Associated morphology	False	Myelin sheath alteration	Inferred relationship	Some	1
Aicardi Goutieres syndrome	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	5
Aicardi Goutieres syndrome type 1	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	4
Aicardi Goutieres syndrome type 2	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	4
Aicardi Goutieres syndrome type 3	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	4
Aicardi Goutieres syndrome type 4 (disorder)	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	4
Aicardi Goutieres syndrome type 5 (disorder)	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	4
Adrenoleukodystrophy	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
Neonatal adrenoleukodystrophy	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	2
Adolescent X-linked adrenoleukodystrophy (disorder)	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	2
Childhood cerebral X-linked adrenoleukodystrophy	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	2
Sphingolipid activator protein 1 deficiency	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
Cholestanol storage disease	Associated morphology	False	Myelin sheath alteration	Inferred relationship	Some	4
Spongy degeneration of central nervous system	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	3
Metachromatic leukodystrophy without arylsulfatase deficiency	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
Metachromatic leukodystrophy, congenital type	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	2
Metachromatic leukodystrophy, juvenile type	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
Metachromatic leukodystrophy, late infantile type	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
Arylsulfatase A deficiency	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
Metachromatic leucodystrophy (disorder)	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	2
Dystonia due to metachromatic leucodystrophy (disorder)	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	4
Adrenomyeloneuropathy (disorder)	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1
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.	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Some	1

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Id	Description	Lang	Type	Status	Case?	Module
193985010	Myelin sheath alteration	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
729331011	Myelin sheath alteration (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core