125495003: Myelin sheath alteration (morphologic abnormality)

SNOMED CT Concept\Body structure\Morphologically altered structure\Morphologically abnormal structure\Lesion\Extracellular alteration (morphologic abnormality)\Myelin sheath alteration

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

193985010 Myelin sheath alteration en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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 Only initial character 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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Myelin sheath alteration	Is a	Extracellular alteration (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

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	Existential restriction modifier (core metadata concept)	1
Atypical Krabbe disease due to saposin A deficiency (disorder)	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cholestanol storage disease	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Existential restriction modifier (core metadata concept)	1
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hypomyelination of early myelinating structures	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Alexander disease type II	Associated morphology	True	Myelin sheath alteration	Inferred relationship	Existential restriction modifier (core metadata concept)	1

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This concept is not in any reference sets