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Terminology chevron_right Concepts chevron_right 230562000

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Component

230562000

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital hypomyelinating neuropathy (disorder)

Shortest Term

Lyon's hypomyelinating neuropathy

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

Congenital hypomyelinating neuropathy (disorder)

SCTID: 230562000, Primitive, Active

230562000|Congenital hypomyelinating neuropathy (disorder)|

en Congenital hypomyelinating neuropathy
en Congenital hypomyelinating neuropathy (disorder)
en Lyon's hypomyelinating neuropathy

Expression

230562000 |Congenital hypomyelinating neuropathy (disorder)|
 <<< 386033004 |Neuropathy (disorder)| + 
88425004 |Congenital anomaly of nervous system (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 111007000 |Hypomyelination (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 3057000 |Nerve structure (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
345474019 - Congenital hypomyelinating neuropathy (en) View
345474019	en	Synonym (core metadata concept)	Congenital hypomyelinating neuropathy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
618389011 - Congenital hypomyelinating neuropathy (disorder) (en) View
618389011	en	Fully specified name (core metadata concept)	Congenital hypomyelinating neuropathy (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
345475018 - Lyon's hypomyelinating neuropathy (en) View
345475018	en	Synonym (core metadata concept)	Lyon's hypomyelinating neuropathy	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (492195022) - 230562000 -> 3058005 (363698007) View
363698007 \|Finding site (attribute)\|	3058005 \|Peripheral nervous system structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (492196023) - 230562000 -> 3057000 (363698007) View
363698007 \|Finding site (attribute)\|	3057000 \|Nerve structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2532001023) - 230562000 -> 22133005 (116680003) View
116680003 \|Is a (attribute)\|	22133005 \|Congenital anomaly of the peripheral nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10528631029) - 230562000 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12065552025) - 230562000 -> 3057000 (363698007) View
363698007 \|Finding site (attribute)\|	3057000 \|Nerve structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12065553024) - 230562000 -> 111007000 (116676008) View
116676008 \|Associated morphology (attribute)\|	111007000 \|Hypomyelination (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12065554029) - 230562000 -> 88425004 (116680003) View
116680003 \|Is a (attribute)\|	88425004 \|Congenital anomaly of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4977832029) - 230562000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4977833023) - 230562000 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4988019027) - 230562000 -> 3058005 (363698007) View
363698007 \|Finding site (attribute)\|	3058005 \|Peripheral nervous system structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10528630028) - 230562000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10528632020) - 230562000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (492194021) - 230562000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3298442028) - 230562000 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3441900025) - 230562000 -> 3058005 (363698007) View
363698007 \|Finding site (attribute)\|	3058005 \|Peripheral nervous system structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2571506029) - 230562000 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (41018020) - 230562000 -> 230560008 (116680003) View
116680003 \|Is a (attribute)\|	230560008 \|Congenital polyneuropathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2532002027) - 230562000 -> 386033004 (116680003) View
116680003 \|Is a (attribute)\|	386033004 \|Neuropathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
88425004 View
88425004	Congenital anomaly of nervous system (disorder)	Dị tật bẩm sinh của hệ thần kinh	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
386033004 View
386033004	Neuropathy (disorder)	Neuropathy	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 (a87ac43f-0bef-53f6-a357-18bcf05d5f04) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q07.8	TRUE	ALWAYS Q07.8	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)\|
ExtendedMap object (ad20dcda-fbd9-553e-ab07-f64a8f6a8d0b) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G60.0	TRUE	ALWAYS G60.0	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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