59636002: ziekte van Pelizaeus-Merzbacher type 2 (aandoening)

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

\Neurological lesion\Leucodystrophy\Pelizaeus-Merzbacher disease (disorder)\Pelizaeus-Merzbacher disease, connatal variant (disorder)

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

\Congenital anomaly of central nervous system\Pelizaeus-Merzbacher disease, connatal variant (disorder)

\Degenerative disease of the central nervous system\Leucodystrophy\Pelizaeus-Merzbacher disease (disorder)\Pelizaeus-Merzbacher disease, connatal variant (disorder)
\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Pelizaeus-Merzbacher disease (disorder)\Pelizaeus-Merzbacher disease, connatal variant (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)\Pelizaeus-Merzbacher disease, connatal variant (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Pelizaeus-Merzbacher disease (disorder)\Pelizaeus-Merzbacher disease, connatal variant (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Pelizaeus-Merzbacher disease, connatal variant (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\Pelizaeus-Merzbacher disease (disorder)\Pelizaeus-Merzbacher disease, connatal variant (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Pelizaeus-Merzbacher disease, connatal variant (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Pelizaeus-Merzbacher disease, connatal variant (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Pelizaeus-Merzbacher disease, connatal variant (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Pelizaeus-Merzbacher disease, connatal variant (disorder)
\Disease\Degenerative disorder\Congenital degeneration of nervous system\Pelizaeus-Merzbacher disease, connatal variant (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\Pelizaeus-Merzbacher disease (disorder)\Pelizaeus-Merzbacher disease, connatal variant (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Pelizaeus-Merzbacher disease (disorder)\Pelizaeus-Merzbacher disease, connatal variant (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)\Pelizaeus-Merzbacher disease, connatal variant (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Pelizaeus-Merzbacher disease, connatal variant (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Pelizaeus-Merzbacher disease, connatal variant (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Leucodystrophy\Pelizaeus-Merzbacher disease (disorder)\Pelizaeus-Merzbacher disease, connatal variant (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)\Pelizaeus-Merzbacher disease, connatal variant (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Pelizaeus-Merzbacher disease, connatal variant (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)\Pelizaeus-Merzbacher disease, connatal variant (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)\Pelizaeus-Merzbacher disease, connatal variant (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Pelizaeus-Merzbacher disease (disorder)\Pelizaeus-Merzbacher disease, connatal variant (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Pelizaeus-Merzbacher disease, connatal variant (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Pelizaeus-Merzbacher disease, connatal variant (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, connatal variant (disorder)	Is a	Pelizaeus-Merzbacher disease (disorder)	true	Inferred relationship	Some
Pelizaeus-Merzbacher disease, connatal variant (disorder)	Associated morphology	Sudanophilic stain reaction	false	Inferred relationship	Some	3
Pelizaeus-Merzbacher disease, connatal variant (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Pelizaeus-Merzbacher disease, connatal variant (disorder)	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease, connatal variant (disorder)	Associated morphology	Dystrophy	false	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease, connatal variant (disorder)	Associated morphology	Myelin sheath alteration	false	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease, connatal variant (disorder)	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease, connatal variant (disorder)	Associated morphology	Dystrophy	false	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease, connatal variant (disorder)	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease, connatal variant (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
Pelizaeus-Merzbacher disease, connatal variant (disorder)	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease, connatal variant (disorder)	Finding site	White matter structure of brain and spinal cord (body structure)	true	Inferred relationship	Some	2
Pelizaeus-Merzbacher disease, connatal variant (disorder)	Is a	Congenital degeneration of nervous system	true	Inferred relationship	Some
Pelizaeus-Merzbacher disease, connatal variant (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease, connatal variant (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Pelizaeus-Merzbacher disease, connatal variant (disorder)	Is a	Congenital anomaly of central nervous system	true	Inferred relationship	Some
Pelizaeus-Merzbacher disease, connatal variant (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Pelizaeus-Merzbacher disease, connatal variant (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease, connatal variant (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some

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
99071013	Pelizaeus-Merzbacher disease, connatal variant	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
798500019	Pelizaeus-Merzbacher disease, connatal variant (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1231984012	Type II congenital Pelizaeus-Merzbacher disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
11327021000146116	ziekte van Pelizaeus-Merzbacher type 2 (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11327031000146119	connatale 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)
11327041000146110	ziekte van Pelizaeus-Merzbacher type 2	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11327051000146113	PMD type 2	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)