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64855000: Pelizaeus-Merzbacher disease (disorder)

SNOMED CT Concept\Clinical finding\...

\Neurological lesion\Leucodystrophy\Pelizaeus-Merzbacher disease

\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\...

\Leucodystrophy\Pelizaeus-Merzbacher disease

\Hereditary degenerative disease of central nervous system\Pelizaeus-Merzbacher disease

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Pelizaeus-Merzbacher disease
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Pelizaeus-Merzbacher disease
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\Pelizaeus-Merzbacher disease
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\Pelizaeus-Merzbacher disease
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Pelizaeus-Merzbacher disease
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Pelizaeus-Merzbacher disease
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Leucodystrophy\Pelizaeus-Merzbacher disease
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Pelizaeus-Merzbacher disease
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Leucodystrophy\Pelizaeus-Merzbacher disease
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Pelizaeus-Merzbacher disease
\Disease\Developmental disorder\Developmental hereditary disorder\Pelizaeus-Merzbacher disease

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

Descriptions:

Id Description Lang Type Status Case? Module

107800019 Pelizaeus-Merzbacher disease en Synonym Active Case sensitive SNOMED CT core

107801015 Sudanophilic leukodystrophy en Synonym Active Case insensitive SNOMED CT core

804294011 Pelizaeus-Merzbacher disease (disorder) en Fully specified name Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pelizaeus-Merzbacher disease	Is a	Leucodystrophy	true	Inferred relationship	Some
Pelizaeus-Merzbacher disease	Is a	Developmental disorder	false	Inferred relationship	Some
Pelizaeus-Merzbacher disease	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Pelizaeus-Merzbacher disease	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Pelizaeus-Merzbacher disease	Is a	X-linked hereditary disease	true	Inferred relationship	Some
Pelizaeus-Merzbacher disease	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Pelizaeus-Merzbacher disease	Is a	Inherited metabolic disorder of nervous system	false	Inferred relationship	Some
Pelizaeus-Merzbacher disease	Is a	Leucodystrophy without a known biochemical basis	false	Inferred relationship	Some
Pelizaeus-Merzbacher disease	Is a	Disorder of lysosomal enzyme	false	Inferred relationship	Some
Pelizaeus-Merzbacher disease	Associated morphology	Myelin sheath alteration	false	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease	Associated morphology	Dystrophy	false	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease	Associated morphology	Dystrophy	false	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease	Finding site	Structure of nervous system	false	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease	Finding site	Structure of nervous system	false	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease	Occurrence	Congenital	false	Inferred relationship	Some	3
Pelizaeus-Merzbacher disease	Associated morphology	Sudanophilic stain reaction	false	Inferred relationship	Some	4
Pelizaeus-Merzbacher disease	Finding site	White matter structure of brain and spinal cord	true	Inferred relationship	Some	2
Pelizaeus-Merzbacher disease	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
Pelizaeus-Merzbacher disease	Finding site	Myelinated nerve fibre structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Pelizaeus-Merzbacher disease null syndrome	Is a	True	Pelizaeus-Merzbacher disease	Inferred relationship	Some
Pelizaeus-Merzbacher disease in female carrier	Is a	True	Pelizaeus-Merzbacher disease	Inferred relationship	Some
Pelizaeus-Merzbacher disease, connatal variant	Is a	True	Pelizaeus-Merzbacher disease	Inferred relationship	Some
Pelizaeus-Merzbacher disease, classic form	Is a	True	Pelizaeus-Merzbacher disease	Inferred relationship	Some
Type III transitional Pelizaeus-Merzbacher disease	Is a	True	Pelizaeus-Merzbacher disease	Inferred relationship	Some
Type IV adult Pelizaeus-Merzbacher disease	Is a	True	Pelizaeus-Merzbacher disease	Inferred relationship	Some
Type V atypical Pelizaeus-Merzbacher disease	Is a	True	Pelizaeus-Merzbacher disease	Inferred relationship	Some
Type VI Cockayne Pelizaeus-Merzbacher disease	Is a	True	Pelizaeus-Merzbacher disease	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
107800019	Pelizaeus-Merzbacher disease	en	Synonym	Active	Case sensitive	SNOMED CT core
107801015	Sudanophilic leukodystrophy	en	Synonym	Active	Case insensitive	SNOMED CT core
804294011	Pelizaeus-Merzbacher disease (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core