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Terminology chevron_right Concepts chevron_right 59636002

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Component

59636002

The component that hold information about this concept.

Fully Specified Name (FSN)

Pelizaeus-merzbacher disease, connatal variant (disorder)

Shortest Term

Pelizaeus-merzbacher disease, connatal variant

Definition Status

900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Pelizaeus-merzbacher disease, connatal variant (disorder)

SCTID: 59636002, Primitive, Active

59636002|Pelizaeus-merzbacher disease, connatal variant (disorder)|

en Pelizaeus-merzbacher disease, connatal variant (disorder)
en Type ii congenital pelizaeus-merzbacher disease
en Pelizaeus-merzbacher disease, connatal variant

Expression

59636002 |Pelizaeus-merzbacher disease, connatal variant (disorder)|
 <<< 64855000 |Pelizaeus-merzbacher disease (disorder)| + 
95477007 |Congenital degeneration of nervous system (disorder)| + 
128124001 |Congenital anomaly of central nervous system (disorder)| + 
1162976004 |X-linked recessive hereditary disease (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 125495003 |Myelin sheath alteration (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 54115001 |Myelinated nerve fiber structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 4720007 |Dystrophy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 389080008 |White matter structure of brain and spinal cord (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
798500019 - Pelizaeus-Merzbacher disease, connatal variant (disorder) (en) View
798500019	en	Fully specified name (core metadata concept)	Pelizaeus-Merzbacher disease, connatal variant (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
1231984012 - Type II congenital Pelizaeus-Merzbacher disease (en) View
1231984012	en	Synonym (core metadata concept)	Type II congenital Pelizaeus-Merzbacher disease	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
99071013 - Pelizaeus-Merzbacher disease, connatal variant (en) View
99071013	en	Synonym (core metadata concept)	Pelizaeus-Merzbacher disease, connatal variant	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (14015441025) - 59636002 -> 1162976004 (116680003) View
116680003 \|Is a (attribute)\|	1162976004 \|X-linked recessive hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (822330022) - 59636002 -> 17815009 (116676008) View
116676008 \|Associated morphology (attribute)\|	17815009 \|Sudanophilic stain reaction (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (822331021) - 59636002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12086164026) - 59636002 -> 95477007 (116680003) View
116680003 \|Is a (attribute)\|	95477007 \|Congenital degeneration of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12086165025) - 59636002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12086166029) - 59636002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12086167022) - 59636002 -> 128124001 (116680003) View
116680003 \|Is a (attribute)\|	128124001 \|Congenital anomaly of central nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12086168028) - 59636002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12086169020) - 59636002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3294172024) - 59636002 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3446085023) - 59636002 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9483302026) - 59636002 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9483303020) - 59636002 -> 54115001 (363698007) View
363698007 \|Finding site (attribute)\|	54115001 \|Myelinated nerve fiber structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9483304025) - 59636002 -> 389080008 (363698007) View
363698007 \|Finding site (attribute)\|	389080008 \|White matter structure of brain and spinal cord (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (822332025) - 59636002 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2598636027) - 59636002 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2598637020) - 59636002 -> 125495003 (116676008) View
116676008 \|Associated morphology (attribute)\|	125495003 \|Myelin sheath alteration (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3294171028) - 59636002 -> 125495003 (116676008) View
116676008 \|Associated morphology (attribute)\|	125495003 \|Myelin sheath alteration (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (245092029) - 59636002 -> 64855000 (116680003) View
116680003 \|Is a (attribute)\|	64855000 \|Pelizaeus-merzbacher disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1162976004 View
1162976004	X-linked recessive hereditary disease (disorder)	X-linked recessive hereditary disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
64855000 View
64855000	Pelizaeus-merzbacher disease (disorder)	Sudanophilic leukodystrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
95477007 View
95477007	Congenital degeneration of nervous system (disorder)	Congenital neurological degeneration	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
128124001 View
128124001	Congenital anomaly of central nervous system (disorder)	Congenital anomaly of central nervous system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (19d43fd7-9a94-5d92-b3d1-202e4f0efa9c) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E75.2	TRUE	ALWAYS E75.2	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|

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