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

SNOMED CT Concept\Clinical finding\...

\Neurological lesion\Leucodystrophy\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\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\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\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\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\Neurological disorder\Neuropathy\Leucodystrophy\Pelizaeus-Merzbacher disease\Pelizaeus-Merzbacher disease, connatal variant
\Disease\Disorder of body system\Neurological disorder\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\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Pelizaeus-Merzbacher disease, connatal variant
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Pelizaeus-Merzbacher disease, connatal variant
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Pelizaeus-Merzbacher disease, connatal variant
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Leucodystrophy\Pelizaeus-Merzbacher disease\Pelizaeus-Merzbacher disease, connatal variant
\Disease\Disorder of body system\Neurological disorder\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 anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Pelizaeus-Merzbacher disease, connatal variant
\Disease\Congenital disease\Congenital anomaly\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 anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Pelizaeus-Merzbacher disease, connatal variant
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Pelizaeus-Merzbacher disease, connatal variant

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1231984012 Type II congenital Pelizaeus-Merzbacher disease en Synonym Active Initial character case insensitive SNOMED CT core

798500019 Pelizaeus-Merzbacher disease, connatal variant (disorder) en Fully specified name Active Case sensitive SNOMED CT core

99071013 Pelizaeus-Merzbacher disease, connatal variant en Synonym Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pelizaeus-Merzbacher disease, connatal variant	Is a	Congenital degeneration of nervous system	true	Inferred relationship	Some
Pelizaeus-Merzbacher disease, connatal variant	Occurrence	Congenital	true	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease, connatal variant	Occurrence	Congenital	true	Inferred relationship	Some	2
Pelizaeus-Merzbacher disease, connatal variant	Is a	Congenital anomaly of central nervous system	true	Inferred relationship	Some
Pelizaeus-Merzbacher disease, connatal variant	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Pelizaeus-Merzbacher disease, connatal variant	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease, connatal variant	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Pelizaeus-Merzbacher disease, connatal variant	Is a	Pelizaeus-Merzbacher disease	true	Inferred relationship	Some
Pelizaeus-Merzbacher disease, connatal variant	Associated morphology	Dystrophy	false	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease, connatal variant	Associated morphology	Myelin sheath alteration	false	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease, connatal variant	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease, connatal variant	Associated morphology	Dystrophy	false	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease, connatal variant	Finding site	Structure of nervous system	false	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease, connatal variant	Associated morphology	Sudanophilic stain reaction	false	Inferred relationship	Some	3
Pelizaeus-Merzbacher disease, connatal variant	Occurrence	Congenital	false	Inferred relationship	Some	4
Pelizaeus-Merzbacher disease, connatal variant	Finding site	Structure of nervous system	false	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease, connatal variant	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
Pelizaeus-Merzbacher disease, connatal variant	Finding site	Myelinated nerve fibre structure	true	Inferred relationship	Some	1
Pelizaeus-Merzbacher disease, connatal variant	Finding site	White matter structure of brain and spinal cord	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1231984012	Type II congenital Pelizaeus-Merzbacher disease	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
798500019	Pelizaeus-Merzbacher disease, connatal variant (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
99071013	Pelizaeus-Merzbacher disease, connatal variant	en	Synonym	Active	Case sensitive	SNOMED CT core