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

SNOMED CT Concept\Clinical finding\...

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

\Central nervous system finding\Disorder of the central nervous system\...

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

\Degenerative disease of the central nervous system\Leukodystrophy\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\Hereditary disorder of nervous system\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\X-linked hereditary disease\X-linked recessive hereditary disease\Pelizaeus-Merzbacher disease, connatal variant
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\Pelizaeus-Merzbacher disease\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\Leukodystrophy\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\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Pelizaeus-Merzbacher disease\Pelizaeus-Merzbacher disease, connatal variant
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Leukodystrophy\Pelizaeus-Merzbacher disease\Pelizaeus-Merzbacher disease, connatal variant
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Pelizaeus-Merzbacher disease\Pelizaeus-Merzbacher disease, connatal variant
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Pelizaeus-Merzbacher disease, connatal variant
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Pelizaeus-Merzbacher disease, connatal variant
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\Pelizaeus-Merzbacher disease, connatal variant
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Leukodystrophy\Pelizaeus-Merzbacher disease\Pelizaeus-Merzbacher disease, connatal variant
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Pelizaeus-Merzbacher disease\Pelizaeus-Merzbacher disease, connatal variant
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Pelizaeus-Merzbacher disease, connatal variant
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Pelizaeus-Merzbacher disease, connatal variant
\Disease\Developmental disorder\Developmental hereditary disorder\Pelizaeus-Merzbacher disease\Pelizaeus-Merzbacher disease, connatal variant
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Pelizaeus-Merzbacher disease, connatal variant
\Disease\Developmental 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. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

99071013 Pelizaeus-Merzbacher disease, connatal variant en Synonym Active Entire term case sensitive SNOMED CT core module
798500019 Pelizaeus-Merzbacher disease, connatal variant (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module
1231984012 Type II congenital Pelizaeus-Merzbacher disease en Synonym Active Only initial character case insensitive SNOMED CT core module

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
Pelizaeus-Merzbacher disease, connatal variant	Associated morphology	Sudanophilic stain reaction	false	Inferred relationship	Existential restriction modifier	3
Pelizaeus-Merzbacher disease, connatal variant	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Pelizaeus-Merzbacher disease, connatal variant	Finding site	Structure of nervous system	false	Inferred relationship	Existential restriction modifier	1
Pelizaeus-Merzbacher disease, connatal variant	Associated morphology	Dystrophy	false	Inferred relationship	Existential restriction modifier	1
Pelizaeus-Merzbacher disease, connatal variant	Associated morphology	Myelin sheath alteration	false	Inferred relationship	Existential restriction modifier	1
Pelizaeus-Merzbacher disease, connatal variant	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Existential restriction modifier	1
Pelizaeus-Merzbacher disease, connatal variant	Associated morphology	Dystrophy	false	Inferred relationship	Existential restriction modifier	1
Pelizaeus-Merzbacher disease, connatal variant	Finding site	Structure of nervous system	false	Inferred relationship	Existential restriction modifier	1
Pelizaeus-Merzbacher disease, connatal variant	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier	2
Pelizaeus-Merzbacher disease, connatal variant	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Existential restriction modifier	1
Pelizaeus-Merzbacher disease, connatal variant	Finding site	White matter structure of brain and spinal cord	true	Inferred relationship	Existential restriction modifier	2
Pelizaeus-Merzbacher disease, connatal variant	Is a	Congenital degeneration of nervous system	true	Inferred relationship	Existential restriction modifier
Pelizaeus-Merzbacher disease, connatal variant	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Pelizaeus-Merzbacher disease, connatal variant	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Pelizaeus-Merzbacher disease, connatal variant	Is a	Congenital anomaly of central nervous system	true	Inferred relationship	Existential restriction modifier
Pelizaeus-Merzbacher disease, connatal variant	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Pelizaeus-Merzbacher disease, connatal variant	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Pelizaeus-Merzbacher disease, connatal variant	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier

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
99071013	Pelizaeus-Merzbacher disease, connatal variant	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
798500019	Pelizaeus-Merzbacher disease, connatal variant (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
1231984012	Type II congenital Pelizaeus-Merzbacher disease	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module