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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

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 Some
Myelinated nerve fiber structure partie de Entire central nervous system tract false Additional relationship Some
Myelinated nerve fiber structure partie de Entire nerve root false Additional relationship Some
Myelinated nerve fiber structure partie de Entire spinal nerve false Additional relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Structure of myelinated retinal nerve fiber Is a False Myelinated nerve fiber structure Inferred relationship Some
Entire myelinated nerve fibre Is a True Myelinated nerve fiber structure Inferred relationship Some
Myelin sheath structure Is a True Myelinated nerve fiber structure Inferred relationship Some
Leucodystrophy without a known biochemical basis Finding site False Myelinated nerve fiber structure Inferred relationship Some 1
Odontoleukodystrophy (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
HSMN IV Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
Leucodystrophy Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
Galactosylceramide beta-galactosidase deficiency Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
Adult onset autosomal dominant leukodystrophy (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
RNA polymerase III-related leukodystrophy Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Some 2
Progressive encephalopathy with severe infantile anorexia (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
TUBB4A-related leukodystrophy Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
Pelizaeus Merzbacher like disease (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Some 2
Cerebroretinal vasculopathy Finding site False Myelinated nerve fiber structure Inferred relationship Some 1
Globoid cell leukodystrophy, late-onset Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
Dermatoleukodystrophy Finding site True Myelinated nerve fiber structure Inferred relationship Some 2
Neuroaxonal leukodystrophy (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Some 2
Metachromatic leukodystrophy, adult type Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
Alexander's disease Finding site True Myelinated nerve fiber structure Inferred relationship Some 2
Ataxia co-occurrent and due to phytanic acid storage disease (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Some 3
Pelizaeus-Merzbacher disease (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Some 2
Type III transitional Pelizaeus-Merzbacher disease Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
Pelizaeus-Merzbacher disease, classic form Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
Pelizaeus-Merzbacher disease, connatal variant (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
Type V atypical Pelizaeus-Merzbacher disease Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
Type IV adult Pelizaeus-Merzbacher disease Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
Type VI Cockayne Pelizaeus-Merzbacher disease Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Some 3
X-linked spastic paraplegia type 2 (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Some 3
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Some 2
Muscle eye brain disease with bilateral multicystic leukodystrophy Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
Galactocerebroside beta-galactosidase deficiency - early onset Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
Pelizaeus Merzbacher like disease due to HSPD1 mutation Finding site True Myelinated nerve fiber structure Inferred relationship Some 2
Pelizaeus Merzbacher like disease due to SLC16A2 mutation (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Some 2
Pelizaeus Merzbacher like disease due to AIMP1 mutation (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Some 2
Pelizaeus Merzbacher like disease due to GJC2 mutation (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Some 2
Pelizaeus-Merzbacher disease null syndrome Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
Pelizaeus-Merzbacher disease in female carrier Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
Vanishing white matter disease (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
Ovarioleukodystrophy Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
VPS11-related autosomal recessive hypomyelinating leukodystrophy Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
Multiple mitochondrial dysfunctions syndrome type 4 Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
4H leukodystrophy (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
RARS-related autosomal recessive hypomyelinating leucodystrophy Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
Alexander disease juvenile form (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
Alexander disease infantile form (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
Alexander disease adult form (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
Aicardi Goutieres syndrome Finding site True Myelinated nerve fiber structure Inferred relationship Some 5
Aicardi Goutieres syndrome type 1 Finding site True Myelinated nerve fiber structure Inferred relationship Some 4
Aicardi Goutieres syndrome type 2 Finding site True Myelinated nerve fiber structure Inferred relationship Some 4
Aicardi Goutieres syndrome type 3 Finding site True Myelinated nerve fiber structure Inferred relationship Some 4
Aicardi Goutieres syndrome type 4 (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Some 4
Aicardi Goutieres syndrome type 5 (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Some 4
Adrenoleukodystrophy Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
Neonatal adrenoleukodystrophy Finding site True Myelinated nerve fiber structure Inferred relationship Some 2
Adolescent X-linked adrenoleukodystrophy (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Some 2
Childhood cerebral X-linked adrenoleukodystrophy Finding site True Myelinated nerve fiber structure Inferred relationship Some 2
Sphingolipid activator protein 1 deficiency Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
Cholestanol storage disease Finding site True Myelinated nerve fiber structure Inferred relationship Some 4
Spongy degeneration of central nervous system Finding site True Myelinated nerve fiber structure Inferred relationship Some 3
Metachromatic leukodystrophy without arylsulfatase deficiency Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
Metachromatic leukodystrophy, congenital type Finding site True Myelinated nerve fiber structure Inferred relationship Some 2
Metachromatic leucodystrophy, juvenile type Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
Metachromatic leukodystrophy, late infantile type Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
Arylsulfatase A deficiency Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
Metachromatic leucodystrophy (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Some 2
Dystonia due to metachromatic leucodystrophy (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Some 4
Adrenomyeloneuropathy (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Some 1
Multiple mitochondrial dysfunctions syndrome type 5 (disorder) Finding site True Myelinated nerve fiber structure Inferred relationship Some 1

Reference Sets

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

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