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125495003: Myelin sheath alteration (morphologic abnormality)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

0 descendants.

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
Hypomyelination with brain stem and spinal cord involvement and leg spasticity 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 Associated morphology True Myelin sheath alteration Inferred relationship Some 2
Pelizaeus Merzbacher like disease due to AIMP1 mutation Associated morphology True Myelin sheath alteration Inferred relationship Some 2
Pelizaeus Merzbacher like disease due to GJC2 mutation 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 Associated morphology True Myelin sheath alteration Inferred relationship Some 1
Ovarioleucodystrophy Associated morphology True Myelin sheath alteration Inferred relationship Some 1
C11ORF73-related autosomal recessive hypomyelinating leucodystrophy Associated morphology True Myelin sheath alteration Inferred relationship Some 1
VPS11-related autosomal recessive hypomyelinating leucodystrophy 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 leucodystrophy Associated morphology True Myelin sheath alteration Inferred relationship Some 1
NKX6-2-related autosomal recessive hypomyelinating leucodystrophy Associated morphology True Myelin sheath alteration Inferred relationship Some 1
Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy 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
Alkaline ceramidase 3 deficiency Associated morphology True Myelin sheath alteration Inferred relationship Some 1
Juvenile Alexander disease Associated morphology True Myelin sheath alteration Inferred relationship Some 1
Infantile Alexander disease Associated morphology True Myelin sheath alteration Inferred relationship Some 1
Adult Alexander disease Associated morphology True Myelin sheath alteration Inferred relationship Some 1
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 leucodystrophy 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 leucodystrophy, 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's 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
Phytanic acid storage disease 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
Phytanic acid storage disease Associated morphology True Myelin sheath alteration Inferred relationship Some 1
Neuroaxonal leucodystrophy 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 leucodystrophy, 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's 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 leucodystrophy 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 Associated morphology True Myelin sheath alteration Inferred relationship Some 1
Pelizaeus Merzbacher like 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 Associated morphology False Myelin sheath alteration Inferred relationship Some 6
Odontoleukodystrophy Associated morphology False Myelin sheath alteration Inferred relationship Some 3
Spastic paraplegia type 2 Associated morphology False Myelin sheath alteration Inferred relationship Some 6
Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum Associated morphology False Myelin sheath alteration Inferred relationship Some 6
Ataxia co-occurrent and due to phytanic acid storage disease 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 Associated morphology True Myelin sheath alteration Inferred relationship Some 2
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease Associated morphology True Myelin sheath alteration Inferred relationship Some 2
Odontoleukodystrophy Associated morphology True Myelin sheath alteration Inferred relationship Some 1
Tubulin beta 4A class IVa 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 Associated morphology True Myelin sheath alteration Inferred relationship Some 3
Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum Associated morphology True Myelin sheath alteration Inferred relationship Some 2
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Associated morphology True Myelin sheath alteration Inferred relationship Some 3
Spastic paraplegia type 2 Associated morphology True Myelin sheath alteration Inferred relationship Some 3

Reference Sets

Body structure foundation reference set

Australian dialect reference set

Description inactivation indicator reference set

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