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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 true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
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. Associated morphology True Myelin sheath alteration Inferred relationship Some 1
Disease caused by homozygous mutation in the prosaposin gene (PSAP) on chromosome 10q22. The disease is genetically distinct from Krabbe disease. Clinical features include onset in infancy with respiratory and neurologic involvement. Associated morphology True Myelin sheath alteration Inferred relationship Some 1
Cholestanol storage disease Associated morphology True Myelin sheath alteration Inferred relationship Some 1
A rare genetic neurometabolic disease characterised by microcephaly, short stature, epilepsy, cerebral hypomyelination, severe global developmental delay, and progressive spasticity. Macrocytic anaemia and hyperthermia have also been reported in association. Brain imaging reveals delayed myelination with minimal progression over time, mild cerebellar atrophy and/or thin corpus callosum. Associated morphology True Myelin sheath alteration Inferred relationship Some 1
A rare genetic neurological disorder with characteristics of hypomyelination of early myelinating structures such as the brainstem, cerebellar white matter, optic radiation, and periventricular white matter, while structures acquiring myelin later are better myelinated. Patients present in infancy with nystagmus, developmental delay, and progressive ataxic-spastic or ataxic syndrome. Cognitive functions are normal or only mildly impaired. Associated morphology True Myelin sheath alteration Inferred relationship Some 1
An astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms. Associated morphology True Myelin sheath alteration Inferred relationship Some 1

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