1003447007: Pelizaeus-Merzbacher disease null syndrome (disorder)

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

\Neurological lesion\Leucodystrophy\Pelizaeus-Merzbacher disease\Pelizaeus-Merzbacher disease null syndrome

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

\Congenital anomaly of central nervous system (disorder)\Pelizaeus-Merzbacher disease null syndrome

\Degenerative disease of the central nervous system\Leucodystrophy\Pelizaeus-Merzbacher disease\Pelizaeus-Merzbacher disease null syndrome
\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Pelizaeus-Merzbacher disease\Pelizaeus-Merzbacher disease null syndrome

\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 null syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Pelizaeus-Merzbacher disease\Pelizaeus-Merzbacher disease null syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked recessive hereditary disease\Pelizaeus-Merzbacher disease null syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\Pelizaeus-Merzbacher disease\Pelizaeus-Merzbacher disease null syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Pelizaeus-Merzbacher disease null syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Pelizaeus-Merzbacher disease null syndrome
\Disease\Degenerative disorder\Congenital degeneration of nervous system\Pelizaeus-Merzbacher disease null syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\Pelizaeus-Merzbacher disease\Pelizaeus-Merzbacher disease null syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Pelizaeus-Merzbacher disease\Pelizaeus-Merzbacher disease null syndrome
\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 null syndrome
\Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Leucodystrophy\Pelizaeus-Merzbacher disease\Pelizaeus-Merzbacher disease null syndrome
\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 null syndrome
\Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Pelizaeus-Merzbacher disease null syndrome
\Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Pelizaeus-Merzbacher disease null syndrome
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Pelizaeus-Merzbacher disease null syndrome
\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 null syndrome
\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 null syndrome
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Pelizaeus-Merzbacher disease\Pelizaeus-Merzbacher disease null syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Pelizaeus-Merzbacher disease null syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Pelizaeus-Merzbacher disease null syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pelizaeus-Merzbacher disease null syndrome	Is a	Congenital degeneration of nervous system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Pelizaeus-Merzbacher disease null syndrome	Is a	Congenital anomaly of central nervous system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Pelizaeus-Merzbacher disease null syndrome	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pelizaeus-Merzbacher disease null syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pelizaeus-Merzbacher disease null syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pelizaeus-Merzbacher disease null syndrome	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pelizaeus-Merzbacher disease null syndrome	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 null syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pelizaeus-Merzbacher disease null syndrome	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pelizaeus-Merzbacher disease null syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pelizaeus-Merzbacher disease null syndrome	Is a	Pelizaeus-Merzbacher disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Pelizaeus-Merzbacher disease null syndrome	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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4164742011	PLP1 null syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4168274013	Null syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4283397018	Pelizaeus-Merzbacher disease null syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4283398011	Pelizaeus-Merzbacher disease null syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4164742011	PLP1 null syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4168274013	Null syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4283397018	Pelizaeus-Merzbacher disease null syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4283398011	Pelizaeus-Merzbacher disease null syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6498201000241119	syndrome nul dans la maladie de Pelizaeus-Merzbacher	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6498221000241112	maladie de Pelizaeus-Merzbacher par mutation non-sens du gène PLP1	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6498201000241119	syndrome nul dans la maladie de Pelizaeus-Merzbacher	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6498221000241112	maladie de Pelizaeus-Merzbacher par mutation non-sens du gène PLP1	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module