59636002: Pelizaeus-Merzbacher disease, connatal variant (disorder)

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

\Neurological lesion\Leucodystrophy\Pelizaeus-Merzbacher disease\Pelizaeus-Merzbacher disease, connatal variant

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

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

\Degenerative disease of the central nervous system\Leucodystrophy\Pelizaeus-Merzbacher disease\Pelizaeus-Merzbacher disease, connatal variant
\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Pelizaeus-Merzbacher disease\Pelizaeus-Merzbacher disease, connatal variant

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

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	Is a	Pelizaeus-Merzbacher disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Pelizaeus-Merzbacher disease, connatal variant	Associated morphology	Sudanophilic stain reaction	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Pelizaeus-Merzbacher disease, connatal variant	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Pelizaeus-Merzbacher disease, connatal variant	Finding site	Nervous system structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pelizaeus-Merzbacher disease, connatal variant	Associated morphology	Dystrophy	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pelizaeus-Merzbacher disease, connatal variant	Associated morphology	Myelin sheath alteration	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pelizaeus-Merzbacher disease, connatal variant	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pelizaeus-Merzbacher disease, connatal variant	Associated morphology	Dystrophy	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pelizaeus-Merzbacher disease, connatal variant	Finding site	Nervous system structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pelizaeus-Merzbacher disease, connatal variant	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pelizaeus-Merzbacher disease, connatal variant	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pelizaeus-Merzbacher disease, connatal variant	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, connatal variant	Is a	Congenital degeneration of nervous system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Pelizaeus-Merzbacher disease, connatal variant	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pelizaeus-Merzbacher disease, connatal variant	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pelizaeus-Merzbacher disease, connatal variant	Is a	Congenital anomaly of central nervous system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Pelizaeus-Merzbacher disease, connatal variant	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pelizaeus-Merzbacher disease, connatal variant	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pelizaeus-Merzbacher disease, connatal variant	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
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
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	Only initial character case insensitive (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
6420061000241115	maladie de Pelizaeus-Merzbacher de type II	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6420071000241111	PMD (Pelizaeus-Merzbacher disease) de type II	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6420081000241113	forme néonatale de 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
6420061000241115	maladie de Pelizaeus-Merzbacher de type II	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6420071000241111	PMD (Pelizaeus-Merzbacher disease) de type II	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6420081000241113	forme néonatale de 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