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Terminology chevron_right Concepts chevron_right 40802007

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Component

40802007

The component that hold information about this concept.

Fully Specified Name (FSN)

Metachromatic leukodystrophy, congenital type (disorder)

Shortest Term

Metachromatic leucodystrophy, congenital type

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, congenital type (disorder)

SCTID: 40802007, Primitive, Active

40802007|Metachromatic leukodystrophy, congenital type (disorder)|

en Metachromatic leucodystrophy, congenital type
en Metachromatic leukodystrophy, congenital type
en Metachromatic leukodystrophy, congenital type (disorder)

Expression

40802007 |Metachromatic leukodystrophy, congenital type (disorder)|
 <<< 396338004 |Metachromatic leucodystrophy (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 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)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
492787017 - Metachromatic leucodystrophy, congenital type (en) View
492787017	en	Synonym (core metadata concept)	Metachromatic leucodystrophy, congenital type	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
68053016 - Metachromatic leukodystrophy, congenital type (en) View
68053016	en	Synonym (core metadata concept)	Metachromatic leukodystrophy, congenital type	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
777513018 - Metachromatic leukodystrophy, congenital type (disorder) (en) View
777513018	en	Fully specified name (core metadata concept)	Metachromatic leukodystrophy, congenital type (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (2546956022) - 40802007 -> 66091009 (116680003) View
116680003 \|Is a (attribute)\|	66091009 \|Congenital disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15587902027) - 40802007 -> 54115001 (363698007) View
363698007 \|Finding site (attribute)\|	54115001 \|Myelinated nerve fiber structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15587903021) - 40802007 -> 125495003 (116676008) View
116676008 \|Associated morphology (attribute)\|	125495003 \|Myelin sheath alteration (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15587904026) - 40802007 -> 389080008 (363698007) View
363698007 \|Finding site (attribute)\|	389080008 \|White matter structure of brain and spinal cord (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15587905025) - 40802007 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2595649020) - 40802007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (773992026) - 40802007 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (214563022) - 40802007 -> 192784006 (116680003) View
116680003 \|Is a (attribute)\|	192784006 \|Metachromatic leucodystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2227834027) - 40802007 -> 396338004 (116680003) View
116680003 \|Is a (attribute)\|	396338004 \|Metachromatic leucodystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (773991022) - 40802007 -> 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 (c4f060c9-b96d-5241-86f5-fc09a2b45814) 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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