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Terminology chevron_right Concepts chevron_right 297278001

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Component

297278001

The component that hold information about this concept.

Fully Specified Name (FSN)

Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator (disorder)

Shortest Term

Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator

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

Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator (disorder)

SCTID: 297278001, Primitive, Active

297278001|Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator (disorder)|

en Metachromatic leucodystrophy due to deficiency of cerebroside sulphatase activator
en Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator
en Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator (disorder)

Expression

297278001 |Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator (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)| }
        { 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)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
437769011 - Metachromatic leucodystrophy due to deficiency of cerebroside sulphatase activator (en) View
437769011	en	Synonym (core metadata concept)	Metachromatic leucodystrophy due to deficiency of cerebroside sulphatase activator	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
437768015 - Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator (en) View
437768015	en	Synonym (core metadata concept)	Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2788914016 - Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator (disorder) (en) View
2788914016	en	Fully specified name (core metadata concept)	Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2772269013 - Metachromatic leucodystrophy due to deficiency of cerebroside sulfatase activator (en) View
2772269013	en	Synonym (core metadata concept)	Metachromatic leucodystrophy due to deficiency of cerebroside sulfatase activator	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
692594010 - Metachromatic leucodystrophy due to deficiency of cerebroside sulfatase activator (disorder) (en) View
692594010	en	Fully specified name (core metadata concept)	Metachromatic leucodystrophy due to deficiency of cerebroside sulfatase activator (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15686663027) - 297278001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15587918022) - 297278001 -> 54115001 (363698007) View
363698007 \|Finding site (attribute)\|	54115001 \|Myelinated nerve fiber structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15587919025) - 297278001 -> 125495003 (116676008) View
116676008 \|Associated morphology (attribute)\|	125495003 \|Myelin sheath alteration (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15587920020) - 297278001 -> 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 (15587921024) - 297278001 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (649668020) - 297278001 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (120794029) - 297278001 -> 192784006 (116680003) View
116680003 \|Is a (attribute)\|	192784006 \|Metachromatic leucodystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2223217026) - 297278001 -> 396338004 (116680003) View
116680003 \|Is a (attribute)\|	396338004 \|Metachromatic leucodystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (649669028) - 297278001 -> 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 (36ff6f88-7618-5bde-9d19-eeba4fa3cde0) 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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