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Terminology chevron_right Concepts chevron_right 238023004

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Component

238023004

The component that hold information about this concept.

Fully Specified Name (FSN)

B variant hexosaminidase a deficiency - adult (disorder)

Shortest Term

B variant hexosaminidase a deficiency - adult

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

B variant hexosaminidase a deficiency - adult (disorder)

SCTID: 238023004, Primitive, Active

238023004|B variant hexosaminidase a deficiency - adult (disorder)|

en B variant hexosaminidase a deficiency - adult (disorder)
en B variant hexosaminidase a deficiency - adult

Expression

238023004 |B variant hexosaminidase a deficiency - adult (disorder)|
 <<< 192787004 |B variant hexosaminidase a deficiency (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
626844013 - B variant hexosaminidase A deficiency - adult (disorder) (en) View
626844013	en	Fully specified name (core metadata concept)	B variant hexosaminidase A deficiency - adult (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
356760011 - B variant hexosaminidase A deficiency - adult (en) View
356760011	en	Synonym (core metadata concept)	B variant hexosaminidase A deficiency - adult	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (527066021) - 238023004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (527067028) - 238023004 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (53671020) - 238023004 -> 192787004 (116680003) View
116680003 \|Is a (attribute)\|	192787004 \|B variant hexosaminidase a deficiency (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
192787004 View
192787004	B variant hexosaminidase a deficiency (disorder)	B variant hexosaminidase a deficiency	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 (0e7cc224-c0b0-5e61-9b3f-c5e21732b305) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E75.0	TRUE	ALWAYS E75.0	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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