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54115001: Myelinated nerve fiber structure (body structure)

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
89943019 Myelinated nerve fiber en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
496867014 Myelinated nerve fiber structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
496868016 Myelinated nerve fibre structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
496869012 Myelinated nerve fibre en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
792311017 Myelinated nerve fiber structure (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
89943019 Myelinated nerve fiber en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
89943019 Myelinated nerve fiber en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
496867014 Myelinated nerve fiber structure en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
496867014 Myelinated nerve fiber structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
496868016 Myelinated nerve fibre structure en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
496868016 Myelinated nerve fibre structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
496869012 Myelinated nerve fibre en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
496869012 Myelinated nerve fibre en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
792311017 Myelinated nerve fiber structure (body structure) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
792311017 Myelinated nerve fiber structure (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Myelinated nerve fiber structure Is a Nerve fiber true Inferred relationship Existential restriction modifier (core metadata concept)
Myelinated nerve fiber structure partie de Entire central nervous system tract (body structure) false Additional relationship (core metadata concept) Existential restriction modifier (core metadata concept)
Myelinated nerve fiber structure partie de Entire nerve root false Additional relationship (core metadata concept) Existential restriction modifier (core metadata concept)
Myelinated nerve fiber structure partie de Entire spinal nerve false Additional relationship (core metadata concept) Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Structure of myelinated retinal nerve fiber Is a False Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept)
Entire myelinated nerve fibre Is a True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept)
Myelin sheath structure (cell structure) Is a True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept)
Leucodystrophy without a known biochemical basis Finding site False Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
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. Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Phytanic acid storage disease (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Leucodystrophy Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Galactosylceramide beta-galactosidase deficiency Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Adult onset autosomal dominant leukodystrophy (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Ribonucleic acid polymerase III-related leukodystrophy (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 2
RAVINE syndrome Finding site True Myelinated nerve fiber structure 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. Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Pelizaeus Merzbacher like disease (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Cerebroretinal vasculopathy Finding site False Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Globoid cell leukodystrophy, late-onset (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Dermatoleukodystrophy Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Neuroaxonal leukodystrophy Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Metachromatic leucodystrophy, adult type Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Alexander's disease Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Ataxia co-occurrent and due to phytanic acid storage disease (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Pelizaeus-Merzbacher disease Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Type III transitional Pelizaeus-Merzbacher disease Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Pelizaeus-Merzbacher disease, classic form Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Pelizaeus-Merzbacher disease, connatal variant Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Type V atypical Pelizaeus-Merzbacher disease (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Type IV adult Pelizaeus-Merzbacher disease Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Type VI Cockayne Pelizaeus-Merzbacher disease Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked spastic paraplegia type 2 (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Muscle eye brain disease with bilateral multicystic leukodystrophy Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Galactocerebroside beta-galactosidase deficiency - early onset (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Pelizaeus Merzbacher like disease due to HSPD1 mutation Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Pelizaeus Merzbacher like disease due to SLC16A2 mutation (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Pelizaeus Merzbacher like disease due to AIMP1 mutation (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Pelizaeus Merzbacher like disease due to GJC2 mutation (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Pelizaeus-Merzbacher disease null syndrome Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Pelizaeus-Merzbacher disease in female carrier Finding site True Myelinated nerve fiber structure 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. Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Ovarioleukodystrophy Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
C11ORF73-related autosomal recessive hypomyelinating leucodystrophy Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
VPS11-related autosomal recessive hypomyelinating leucodystrophy Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple mitochondrial dysfunctions syndrome type 4 (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
4H leucodystrophy Finding site True Myelinated nerve fiber structure 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. Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Alexander disease juvenile form Finding site False Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Alexander disease type I (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Alexander disease adult form Finding site False Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Aicardi Goutieres syndrome (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Aicardi Goutieres syndrome type 1 (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Aicardi Goutieres syndrome type 2 (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Aicardi Goutieres syndrome type 3 (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Aicardi Goutieres syndrome type 4 Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Aicardi Goutieres syndrome type 5 (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Adrenoleukodystrophy Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Neonatal adrenoleucodystrophy Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Adolescent X-linked adrenoleukodystrophy Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Childhood cerebral X-linked adrenoleukodystrophy (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Sphingolipid activator protein 1 deficiency Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Cholestanol storage disease Finding site False Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Spongy degeneration of central nervous system (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Metachromatic leukodystrophy without arylsulfatase deficiency Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Metachromatic leukodystrophy, congenital type Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Metachromatic leucodystrophy, juvenile type Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Metachromatic leukodystrophy, late infantile type Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Arylsulfatase A deficiency Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Metachromatic leukodystrophy Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Dystonia due to metachromatic leucodystrophy (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Adrenomyeloneuropathy (disorder) Finding site True Myelinated nerve fiber structure 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. Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Atypical Krabbe disease due to saposin A deficiency (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Cholestanol storage disease Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypomyelination of early myelinating structures Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Alexander disease type II Finding site True Myelinated nerve fiber structure Inferred relationship Existential restriction modifier (core metadata concept) 1

Reference Sets

Anatomy structure and entire association reference set (foundation metadata concept)

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