87607002: ziekte van Pelizaeus-Merzbacher type 1 (aandoening)

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

\Neurological lesion\Leucodystrophy\Pelizaeus-Merzbacher disease (disorder)\Pelizaeus-Merzbacher disease, classic form

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

\Leucodystrophy\Pelizaeus-Merzbacher disease (disorder)\Pelizaeus-Merzbacher disease, classic form

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

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

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, classic form	Is a	Pelizaeus-Merzbacher disease (disorder)	true	Inferred relationship	Some
Pelizaeus-Merzbacher disease, classic form	Associated morphology	Sudanophilic stain reaction	false	Inferred relationship	Some	3
Pelizaeus-Merzbacher disease, classic form	Occurrence	Congenital	false	Inferred relationship	Some	4
Pelizaeus-Merzbacher disease, classic form	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease, classic form	Associated morphology	Dystrophy	false	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease, classic form	Associated morphology	Myelin sheath alteration	false	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease, classic form	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease, classic form	Associated morphology	Dystrophy	false	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease, classic form	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease, classic form	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease, classic form	Finding site	White matter structure of brain and spinal cord (body structure)	true	Inferred relationship	Some	2
Pelizaeus-Merzbacher disease, classic form	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
Pelizaeus-Merzbacher disease, classic form	Occurrence	Infancy	true	Inferred relationship	Some	2
Pelizaeus-Merzbacher disease, classic form	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease, classic form	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Pelizaeus-Merzbacher disease, classic form	Occurrence	Infancy	true	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease, classic form	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
145247019	Pelizaeus-Merzbacher disease, classic form	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
830116011	Pelizaeus-Merzbacher disease, classic form (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1235256019	Type I classic Pelizaeus-Merzbacher disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6162301000146111	klassieke vorm van ziekte van Pelizaeus-Merzbacher (aandoening)	nl	Fully specified name	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6162311000146113	klassieke vorm van ziekte van Pelizaeus-Merzbacher	nl	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11327091000146118	klassieke vorm van Pelizaeus-Merzbacher-syndroom	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11327101000146113	ziekte van Pelizaeus-Merzbacher type 1 (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11327111000146110	PMD type 1	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11327121000146117	ziekte van Pelizaeus-Merzbacher type 1	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)