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Terminology chevron_right Concepts chevron_right 68390005

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Component

68390005

The component that hold information about this concept.

Fully Specified Name (FSN)

Sphingolipid activator protein 1 deficiency (disorder)

Shortest Term

Saposin b deficiency

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

Sphingolipid activator protein 1 deficiency (disorder)

SCTID: 68390005, Primitive, Active

68390005|Sphingolipid activator protein 1 deficiency (disorder)|

en Sphingolipid activator protein 1 deficiency
en Sphingolipid activator protein 1 deficiency (disorder)
en Sapi - sphingolipid activator protein i deficiency
en Saposin b deficiency

Expression

68390005 |Sphingolipid activator protein 1 deficiency (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
113595017 - Sphingolipid activator protein 1 deficiency (en) View
113595017	en	Synonym (core metadata concept)	Sphingolipid activator protein 1 deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
808219010 - Sphingolipid activator protein 1 deficiency (disorder) (en) View
808219010	en	Fully specified name (core metadata concept)	Sphingolipid activator protein 1 deficiency (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1233039018 - SAPI - Sphingolipid activator protein I deficiency (en) View
1233039018	en	Synonym (core metadata concept)	SAPI - Sphingolipid activator protein I deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
1233038014 - Saposin B deficiency (en) View
1233038014	en	Synonym (core metadata concept)	Saposin B deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15686646026) - 68390005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15587882026) - 68390005 -> 54115001 (363698007) View
363698007 \|Finding site (attribute)\|	54115001 \|Myelinated nerve fiber structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15587883020) - 68390005 -> 125495003 (116676008) View
116676008 \|Associated morphology (attribute)\|	125495003 \|Myelin sheath alteration (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15587884025) - 68390005 -> 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 (15587885029) - 68390005 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (844801029) - 68390005 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (259336023) - 68390005 -> 192784006 (116680003) View
116680003 \|Is a (attribute)\|	192784006 \|Metachromatic leucodystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2230463028) - 68390005 -> 396338004 (116680003) View
116680003 \|Is a (attribute)\|	396338004 \|Metachromatic leucodystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (844802020) - 68390005 -> 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 (711fd881-b924-5f16-9683-d10685bc2bd9) 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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