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125495003: Myelin sheath alteration (morphologic abnormality)

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
193985010 Myelin sheath alteration en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Myelin sheath alteration Is a Extracellular alteration (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Galactosylceramide beta-galactosidase deficiency Associated morphology False Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Schultz disease Associated morphology False Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Neuroaxonal leukodystrophy Associated morphology False Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 2
Type III transitional Pelizaeus-Merzbacher disease Associated morphology False Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Type IV adult Pelizaeus-Merzbacher disease Associated morphology False Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Type V atypical Pelizaeus-Merzbacher disease (disorder) Associated morphology False Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Type VI Cockayne Pelizaeus-Merzbacher disease Associated morphology False Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Leucodystrophy without a known biochemical basis Associated morphology False Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Globoid cell leukodystrophy, late-onset (disorder) Associated morphology False Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Dalmatian leukodystrophy Associated morphology False Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 2
Pelizaeus-Merzbacher disease, connatal variant Associated morphology False Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Pelizaeus-Merzbacher disease Associated morphology False Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Alexander's disease Associated morphology False Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 2
Pelizaeus-Merzbacher disease, classic form Associated morphology False Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Leucodystrophy Associated morphology False Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Leucodystrophy NOS Associated morphology False Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Phytanic acid storage disease (disorder) Associated morphology False Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Pelizaeus-Merzbacher disease Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Pelizaeus-Merzbacher disease, connatal variant Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Phytanic acid storage disease (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Neuroaxonal leukodystrophy Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 2
Type V atypical Pelizaeus-Merzbacher disease (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Type IV adult Pelizaeus-Merzbacher disease Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Type III transitional Pelizaeus-Merzbacher disease Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Globoid cell leukodystrophy, late-onset (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Type VI Cockayne Pelizaeus-Merzbacher disease Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Pelizaeus-Merzbacher disease, classic form Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Leucodystrophy Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Alexander's disease Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 2
Schultz disease Associated morphology False Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Dalmatian leukodystrophy Associated morphology False Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 2
Leucodystrophy without a known biochemical basis Associated morphology False Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Leucodystrophy NOS Associated morphology False Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Galactosylceramide beta-galactosidase deficiency Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Adult onset autosomal dominant leukodystrophy (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Metachromatic leucodystrophy, adult type Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Ribonucleic acid polymerase III-related leukodystrophy (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
RAVINE syndrome Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Pelizaeus Merzbacher like disease (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Cerebroretinal vasculopathy Associated morphology False Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 3
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Associated morphology False Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 6
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive. Associated morphology False Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked spastic paraplegia type 2 (disorder) Associated morphology False Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 6
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) Associated morphology False Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 6
Ataxia co-occurrent and due to phytanic acid storage disease (disorder) Associated morphology False Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 5
Dermatoleukodystrophy Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 2
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 2
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 2
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive. Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
Cerebroretinal vasculopathy Associated morphology False Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Ataxia co-occurrent and due to phytanic acid storage disease (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 3
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked spastic paraplegia type 2 (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 3
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 2
Muscle eye brain disease with bilateral multicystic leukodystrophy Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Galactocerebroside beta-galactosidase deficiency - early onset (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Pelizaeus Merzbacher like disease due to HSPD1 mutation Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 2
Pelizaeus Merzbacher like disease due to SLC16A2 mutation (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 2
Pelizaeus Merzbacher like disease due to AIMP1 mutation (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 2
Pelizaeus Merzbacher like disease due to GJC2 mutation (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 2
Pelizaeus-Merzbacher disease null syndrome Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Pelizaeus-Merzbacher disease in female carrier Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Onset of disease between 2 and 5 years of age with characteristics of cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, 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. This disease is linked to mutations in the five EIF2B genes encoding the five subunits of the eukaryotic initiation factor 2B (eIF2B), involved in the protein synthesis and its regulation under cellular stress. Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Ovarioleukodystrophy Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
C11ORF73-related autosomal recessive hypomyelinating leucodystrophy Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
VPS11-related autosomal recessive hypomyelinating leucodystrophy Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple mitochondrial dysfunctions syndrome type 4 (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
4H leucodystrophy Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Alexander disease juvenile form Associated morphology False Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Alexander disease type I (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Alexander disease adult form Associated morphology False Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Aicardi Goutieres syndrome (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 5
Aicardi Goutieres syndrome type 1 (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 4
Aicardi Goutieres syndrome type 2 (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 4
Aicardi Goutieres syndrome type 3 (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 4
Aicardi Goutieres syndrome type 4 Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 4
Aicardi Goutieres syndrome type 5 (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 4
Adrenoleukodystrophy Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Neonatal adrenoleucodystrophy Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 2
Adolescent X-linked adrenoleukodystrophy Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 2
Childhood cerebral X-linked adrenoleukodystrophy (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 2
Sphingolipid activator protein 1 deficiency Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Cholestanol storage disease Associated morphology False Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 4
Spongy degeneration of central nervous system (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 3
Metachromatic leukodystrophy without arylsulfatase deficiency Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Metachromatic leukodystrophy, congenital type Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 2
Metachromatic leucodystrophy, juvenile type Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Metachromatic leukodystrophy, late infantile type Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Arylsulfatase A deficiency Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Metachromatic leukodystrophy Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 1
Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 2
Dystonia due to metachromatic leucodystrophy (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 4
Adrenomyeloneuropathy (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1

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