64855000: ziekte van Pelizaeus-Merzbacher (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Neurological lesion\Leucodystrophy\Pelizaeus-Merzbacher disease (disorder)

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

\Leucodystrophy\Pelizaeus-Merzbacher disease (disorder)

\Hereditary degenerative disease of central nervous system\Pelizaeus-Merzbacher disease (disorder)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Type III transitional Pelizaeus-Merzbacher disease	Is a	True	Pelizaeus-Merzbacher disease (disorder)	Inferred relationship	Some
Type IV adult Pelizaeus-Merzbacher disease	Is a	True	Pelizaeus-Merzbacher disease (disorder)	Inferred relationship	Some
Type V atypical Pelizaeus-Merzbacher disease	Is a	True	Pelizaeus-Merzbacher disease (disorder)	Inferred relationship	Some
Type VI Cockayne Pelizaeus-Merzbacher disease	Is a	True	Pelizaeus-Merzbacher disease (disorder)	Inferred relationship	Some
Pelizaeus-Merzbacher disease, connatal variant (disorder)	Is a	True	Pelizaeus-Merzbacher disease (disorder)	Inferred relationship	Some
Pelizaeus-Merzbacher disease, classic form	Is a	True	Pelizaeus-Merzbacher disease (disorder)	Inferred relationship	Some
Pelizaeus-Merzbacher disease null syndrome	Is a	True	Pelizaeus-Merzbacher disease (disorder)	Inferred relationship	Some
Pelizaeus-Merzbacher disease in female carrier	Is a	True	Pelizaeus-Merzbacher disease (disorder)	Inferred relationship	Some
Dystonia due to Pelizaeus-Merzbacher disease (disorder)	Due to	True	Pelizaeus-Merzbacher disease (disorder)	Inferred relationship	Some	2

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
107800019	Pelizaeus-Merzbacher disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
107801015	Sudanophilic leukodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
804294011	Pelizaeus-Merzbacher disease (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2349381000146111	ziekte van Pelizaeus-Merzbacher (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2349391000146113	ziekte van Pelizaeus-Merzbacher	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7588501000146112	Hierbij is er sprake van degeneratie van de hersenen.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)