87607002: Pelizaeus-Merzbacher disease, classic form (disorder)

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

\Neurological lesion\Leucodystrophy\Pelizaeus-Merzbacher disease\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\Pelizaeus-Merzbacher disease, classic form

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Pelizaeus-Merzbacher disease\Pelizaeus-Merzbacher disease, classic form
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Pelizaeus-Merzbacher disease\Pelizaeus-Merzbacher disease, classic form
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked recessive hereditary disease\Pelizaeus-Merzbacher disease, classic form
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\Pelizaeus-Merzbacher disease\Pelizaeus-Merzbacher disease, classic form
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\Pelizaeus-Merzbacher disease\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\Pelizaeus-Merzbacher disease, classic form
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Pelizaeus-Merzbacher disease\Pelizaeus-Merzbacher disease, classic form
\Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Leucodystrophy\Pelizaeus-Merzbacher disease\Pelizaeus-Merzbacher disease, classic form
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Pelizaeus-Merzbacher disease\Pelizaeus-Merzbacher disease, classic form
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Leucodystrophy\Pelizaeus-Merzbacher disease\Pelizaeus-Merzbacher disease, classic form
\Disease\Disorder of body system\Disease 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\Pelizaeus-Merzbacher disease, classic form
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Pelizaeus-Merzbacher disease\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	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Pelizaeus-Merzbacher disease, classic form	Associated morphology	Sudanophilic stain reaction	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Pelizaeus-Merzbacher disease, classic form	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Pelizaeus-Merzbacher disease, classic form	Finding site	Nervous system structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pelizaeus-Merzbacher disease, classic form	Associated morphology	Dystrophy	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pelizaeus-Merzbacher disease, classic form	Associated morphology	Myelin sheath alteration	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pelizaeus-Merzbacher disease, classic form	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pelizaeus-Merzbacher disease, classic form	Associated morphology	Dystrophy	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pelizaeus-Merzbacher disease, classic form	Finding site	Nervous system structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pelizaeus-Merzbacher disease, classic form	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pelizaeus-Merzbacher disease, classic form	Finding site	White matter structure of brain and spinal cord (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pelizaeus-Merzbacher disease, classic form	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pelizaeus-Merzbacher disease, classic form	Occurrence	Infancy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pelizaeus-Merzbacher disease, classic form	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pelizaeus-Merzbacher disease, classic form	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pelizaeus-Merzbacher disease, classic form	Occurrence	Infancy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pelizaeus-Merzbacher disease, classic form	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
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	Only initial character case insensitive (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
3413461001000114	Pelizaeus-Merzbacher-Krankheit, klassische Form	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
897471000172112	maladie de Pelizaeus-Merzbacher, forme classique	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1009521000172115	PMD (Pelizaeus-Merzbacher disease) classique	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
897471000172112	maladie de Pelizaeus-Merzbacher, forme classique	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1009521000172115	PMD (Pelizaeus-Merzbacher disease) classique	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3413461001000114	Pelizaeus-Merzbacher-Krankheit, klassische Form	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module