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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 est un(e) (attribut) 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 (disorder) morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 2
Muscle eye brain disease with bilateral multicystic leukodystrophy morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 1
Galactocerebroside beta-galactosidase deficiency - early onset morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 1
Pelizaeus Merzbacher like disease due to HSPD1 mutation morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 2
Pelizaeus Merzbacher like disease due to SLC16A2 mutation (disorder) morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 2
Pelizaeus Merzbacher like disease due to AIMP1 mutation (disorder) morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 2
Pelizaeus Merzbacher like disease due to GJC2 mutation (disorder) morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 2
Pelizaeus-Merzbacher disease null syndrome morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 1
Pelizaeus-Merzbacher disease in female carrier morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 1
Vanishing white matter disease (disorder) morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 1
Ovarioleukodystrophy morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 1
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (disorder) morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 1
VPS11-related autosomal recessive hypomyelinating leukodystrophy morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 1
Multiple mitochondrial dysfunctions syndrome type 4 morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 1
4H leukodystrophy (disorder) morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 1
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 1
Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 1
RARS-related autosomal recessive hypomyelinating leucodystrophy morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 1
Galactosylceramide beta-galactosidase deficiency morphologie associée (attribut) False Myelin sheath alteration Inferred relationship Some 1
Schultz disease morphologie associée (attribut) False Myelin sheath alteration Inferred relationship Some 1
Neuroaxonal leukodystrophy (disorder) morphologie associée (attribut) False Myelin sheath alteration Inferred relationship Some 2
Type III transitional Pelizaeus-Merzbacher disease morphologie associée (attribut) False Myelin sheath alteration Inferred relationship Some 1
Type IV adult Pelizaeus-Merzbacher disease morphologie associée (attribut) False Myelin sheath alteration Inferred relationship Some 1
Type V atypical Pelizaeus-Merzbacher disease morphologie associée (attribut) False Myelin sheath alteration Inferred relationship Some 1
Type VI Cockayne Pelizaeus-Merzbacher disease morphologie associée (attribut) False Myelin sheath alteration Inferred relationship Some 1
Leucodystrophy without a known biochemical basis morphologie associée (attribut) False Myelin sheath alteration Inferred relationship Some 1
Globoid cell leucodystrophy, late-onset morphologie associée (attribut) False Myelin sheath alteration Inferred relationship Some 1
Dalmatian leukodystrophy (disorder) morphologie associée (attribut) False Myelin sheath alteration Inferred relationship Some 2
Pelizaeus-Merzbacher disease, connatal variant (disorder) morphologie associée (attribut) False Myelin sheath alteration Inferred relationship Some 1
Pelizaeus-Merzbacher disease morphologie associée (attribut) False Myelin sheath alteration Inferred relationship Some 1
Alexander's disease morphologie associée (attribut) False Myelin sheath alteration Inferred relationship Some 2
Pelizaeus-Merzbacher disease, classic form morphologie associée (attribut) False Myelin sheath alteration Inferred relationship Some 1
Leukodystrophy morphologie associée (attribut) False Myelin sheath alteration Inferred relationship Some 1
Leucodystrophy NOS morphologie associée (attribut) False Myelin sheath alteration Inferred relationship Some 1
HSMN IV morphologie associée (attribut) False Myelin sheath alteration Inferred relationship Some 1
Pelizaeus-Merzbacher disease morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 1
Pelizaeus-Merzbacher disease, connatal variant (disorder) morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 1
HSMN IV morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 1
Neuroaxonal leukodystrophy (disorder) morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 2
Type V atypical Pelizaeus-Merzbacher disease morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 1
Type IV adult Pelizaeus-Merzbacher disease morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 1
Type III transitional Pelizaeus-Merzbacher disease morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 1
Globoid cell leucodystrophy, late-onset morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 1
Type VI Cockayne Pelizaeus-Merzbacher disease morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 1
Pelizaeus-Merzbacher disease, classic form morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 1
Leukodystrophy morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 1
Alexander's disease morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 2
Schultz disease morphologie associée (attribut) False Myelin sheath alteration Inferred relationship Some 1
Dalmatian leukodystrophy (disorder) morphologie associée (attribut) False Myelin sheath alteration Inferred relationship Some 2
Leucodystrophy without a known biochemical basis morphologie associée (attribut) False Myelin sheath alteration Inferred relationship Some 1
Leucodystrophy NOS morphologie associée (attribut) False Myelin sheath alteration Inferred relationship Some 1
Galactosylceramide beta-galactosidase deficiency morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 1
leucodystrophie autosomique dominante de l'adulte morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 1
Metachromatic leukodystrophy, adult type morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 1
RNA polymerase III-related leukodystrophy morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 1
Progressive encephalopathy with severe infantile anorexia (disorder) morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 1
Pelizaeus Merzbacher like disease (disorder) morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 1
Cerebroretinal vasculopathy (disorder) morphologie associée (attribut) False Myelin sheath alteration Inferred relationship Some 3
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) morphologie associée (attribut) False Myelin sheath alteration Inferred relationship Some 6
Odontoleukodystrophy (disorder) morphologie associée (attribut) False Myelin sheath alteration Inferred relationship Some 3
X-linked spastic paraplegia type 2 (disorder) morphologie associée (attribut) False Myelin sheath alteration Inferred relationship Some 6
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) morphologie associée (attribut) False Myelin sheath alteration Inferred relationship Some 6
Ataxia co-occurrent and due to phytanic acid storage disease (disorder) morphologie associée (attribut) False Myelin sheath alteration Inferred relationship Some 5
Dermatoleukodystrophy morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 2
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 2
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 2
Odontoleukodystrophy (disorder) morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 1
TUBB4A-related leukodystrophy morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 1
Cerebroretinal vasculopathy (disorder) morphologie associée (attribut) False Myelin sheath alteration Inferred relationship Some 1
Ataxia co-occurrent and due to phytanic acid storage disease (disorder) morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 3
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 2
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 3
X-linked spastic paraplegia type 2 (disorder) morphologie associée (attribut) True Myelin sheath alteration Inferred relationship Some 3

This concept is not in any reference sets

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