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Terminology chevron_right Concepts chevron_right 24326000

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Component

24326000

The component that hold information about this concept.

Fully Specified Name (FSN)

Metachromatic leukodystrophy, adult type (disorder)

Shortest Term

Adult metachromatic leucodystrophy

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

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

Summary

Metachromatic leukodystrophy, adult type (disorder)

SCTID: 24326000, Defined, Active

24326000|Metachromatic leukodystrophy, adult type (disorder)|

en Adult metachromatic leucodystrophy
en Adult metachromatic leukodystrophy
en Metachromatic leucodystrophy, adult type
en Metachromatic leukodystrophy, adult type
en Metachromatic leukodystrophy, adult type (disorder)

Expression

24326000 |Metachromatic leukodystrophy, adult type (disorder)|
 === 396338004 |Metachromatic leucodystrophy (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)| = 41847000 |Adulthood (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)| = 41847000 |Adulthood (qualifier value)| }
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
1223238011 - Adult metachromatic leucodystrophy (en) View
1223238011	en	Synonym (core metadata concept)	Adult metachromatic leucodystrophy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2900006014 - Adult metachromatic leukodystrophy (en) View
2900006014	en	Synonym (core metadata concept)	Adult metachromatic leukodystrophy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
481887011 - Metachromatic leucodystrophy, adult type (en) View
481887011	en	Synonym (core metadata concept)	Metachromatic leucodystrophy, adult type	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
40816018 - Metachromatic leukodystrophy, adult type (en) View
40816018	en	Synonym (core metadata concept)	Metachromatic leukodystrophy, adult type	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
753950011 - Metachromatic leukodystrophy, adult type (disorder) (en) View
753950011	en	Fully specified name (core metadata concept)	Metachromatic leukodystrophy, adult type (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15686670027) - 24326000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12073193027) - 24326000 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12073194022) - 24326000 -> 106018006 (116680003) View
116680003 \|Is a (attribute)\|	106018006 \|Hereditary degenerative disease of central nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12073195023) - 24326000 -> 192781003 (116680003) View
116680003 \|Is a (attribute)\|	192781003 \|Leukodystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3814544021) - 24326000 -> 448054001 (116680003) View
116680003 \|Is a (attribute)\|	448054001 \|Adult onset autosomal dominant leukodystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3820743024) - 24326000 -> 41847000 (246454002) View
246454002 \|Occurrence (attribute)\|	41847000 \|Adulthood (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12073196024) - 24326000 -> 41847000 (246454002) View
246454002 \|Occurrence (attribute)\|	41847000 \|Adulthood (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12073197026) - 24326000 -> 41847000 (246454002) View
246454002 \|Occurrence (attribute)\|	41847000 \|Adulthood (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3820744029) - 24326000 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3825763025) - 24326000 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5882321028) - 24326000 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9473215025) - 24326000 -> 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 (9473216029) - 24326000 -> 54115001 (363698007) View
363698007 \|Finding site (attribute)\|	54115001 \|Myelinated nerve fiber structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3825762024) - 24326000 -> 125495003 (116676008) View
116676008 \|Associated morphology (attribute)\|	125495003 \|Myelin sheath alteration (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (733323027) - 24326000 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (187675022) - 24326000 -> 238031009 (116680003) View
116680003 \|Is a (attribute)\|	238031009 \|Arylsulfatase a deficiency (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2226235029) - 24326000 -> 396338004 (116680003) View
116680003 \|Is a (attribute)\|	396338004 \|Metachromatic leucodystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (733322021) - 24326000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
396338004 View
396338004	Metachromatic leucodystrophy (disorder)	Mld	900000000000074008 \|Necessary but not sufficient concept 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 (3233ad76-13df-5c25-a472-de1d363aeae4) 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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