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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

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 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 (disorder) Associated morphology False Myelin sheath alteration Inferred relationship Some 1
Pelizaeus-Merzbacher disease (disorder) 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 (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Some 1
Pelizaeus-Merzbacher disease, connatal variant (disorder) 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 leukodystrophy, 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
Progressive encephalopathy with severe infantile anorexia (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Some 1
Pelizaeus Merzbacher like disease (disorder) 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
X-linked spastic paraplegia type 2 (disorder) Associated morphology False Myelin sheath alteration Inferred relationship Some 6
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) 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
Dermatoleukodystrophy 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 leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Some 2
Odontoleukodystrophy (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Some 1
TUBB4A-related leukodystrophy 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
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) 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
X-linked spastic paraplegia type 2 (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Some 3
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Some 2
Muscle eye brain disease with bilateral multicystic leukodystrophy 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
Vanishing white matter disease (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Some 1
Ovarioleukodystrophy Associated morphology True Myelin sheath alteration Inferred relationship Some 1
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Some 1
VPS11-related autosomal recessive hypomyelinating leukodystrophy Associated morphology True Myelin sheath alteration Inferred relationship Some 1
Multiple mitochondrial dysfunctions syndrome type 4 Associated morphology True Myelin sheath alteration Inferred relationship Some 1
4H leukodystrophy (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Some 1
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Some 1
Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Some 1
RARS-related autosomal recessive hypomyelinating leucodystrophy Associated morphology True Myelin sheath alteration Inferred relationship Some 1
Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder) 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 leucodystrophy, 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
Multiple mitochondrial dysfunctions syndrome type 5 (disorder) Associated morphology True Myelin sheath alteration Inferred relationship Some 1

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