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Terminology chevron_right Concepts chevron_right 702427005

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Component

702427005

The component that hold information about this concept.

Fully Specified Name (FSN)

Hereditary diffuse leukoencephalopathy with spheroids (disorder)

Shortest Term

Neuroaxonal leukodystrophy

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

Hereditary diffuse leukoencephalopathy with spheroids (disorder)

SCTID: 702427005, Primitive, Active

702427005|Hereditary diffuse leukoencephalopathy with spheroids (disorder)|

en Adult-onset leucodystrophy with neuroaxonal spheroids
en Hdls - hereditary diffuse leucoencephalopathy with spheroids
en Hereditary diffuse leucoencephalopathy with axonal spheroids
en Hereditary diffuse leucoencephalopathy with spheroids
en Adult-onset leukodystrophy with neuroaxonal spheroids
en Hereditary diffuse leukoencephalopathy with axonal spheroids
en Hereditary diffuse leukoencephalopathy with spheroids
en Hereditary diffuse leukoencephalopathy with spheroids (disorder)
en Hdls - hereditary diffuse leukoencephalopathy with spheroids

Expression

702427005 |Hereditary diffuse leukoencephalopathy with spheroids (disorder)|
 <<< 11164009 |Autosomal dominant hereditary disorder (disorder)| + 
363235000 |Hereditary disorder of nervous system (disorder)| + 
22811006 |Leukoencephalopathy (disorder)| : 
        { 363698007 |Finding site (attribute)| = 68523003 |Cerebral white matter structure (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3866562016 - Adult-onset leucodystrophy with neuroaxonal spheroids (en) View
3866562016	en	Synonym (core metadata concept)	Adult-onset leucodystrophy with neuroaxonal spheroids	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3866563014 - HDLS - hereditary diffuse leucoencephalopathy with spheroids (en) View
3866563014	en	Synonym (core metadata concept)	HDLS - hereditary diffuse leucoencephalopathy with spheroids	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3866564015 - Hereditary diffuse leucoencephalopathy with axonal spheroids (en) View
3866564015	en	Synonym (core metadata concept)	Hereditary diffuse leucoencephalopathy with axonal spheroids	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3866565019 - Hereditary diffuse leucoencephalopathy with spheroids (en) View
3866565019	en	Synonym (core metadata concept)	Hereditary diffuse leucoencephalopathy with spheroids	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2995882013 - Neuroaxonal leukodystrophy (en) View
2995882013	en	Synonym (core metadata concept)	Neuroaxonal leukodystrophy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	False
2995142015 - Adult-onset leukodystrophy with neuroaxonal spheroids (en) View
2995142015	en	Synonym (core metadata concept)	Adult-onset leukodystrophy with neuroaxonal spheroids	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2995115016 - Hereditary diffuse leukoencephalopathy with axonal spheroids (en) View
2995115016	en	Synonym (core metadata concept)	Hereditary diffuse leukoencephalopathy with axonal spheroids	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2995526017 - Hereditary diffuse leukoencephalopathy with spheroids (en) View
2995526017	en	Synonym (core metadata concept)	Hereditary diffuse leukoencephalopathy with spheroids	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2995385016 - Hereditary diffuse leukoencephalopathy with spheroids (disorder) (en) View
2995385016	en	Fully specified name (core metadata concept)	Hereditary diffuse leukoencephalopathy with spheroids (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2995846015 - HDLS - hereditary diffuse leukoencephalopathy with spheroids (en) View
2995846015	en	Synonym (core metadata concept)	HDLS - hereditary diffuse leukoencephalopathy with spheroids	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (4968616028) - 702427005 -> 68523003 (363698007) View
363698007 \|Finding site (attribute)\|	68523003 \|Cerebral white matter structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4968613020) - 702427005 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4968614025) - 702427005 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4968615029) - 702427005 -> 22811006 (116680003) View
116680003 \|Is a (attribute)\|	22811006 \|Leukoencephalopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
22811006 View
22811006	Leukoencephalopathy (disorder)	Leucoencephalopathy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363235000 View
363235000	Hereditary disorder of nervous system (disorder)	Hereditary disorder of 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 (405706be-ccdf-5b68-a895-23f4f566555e) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G93.8	TRUE	ALWAYS G93.8	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)\|

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