dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 238024005

Production

add

Component

238024005

The component that hold information about this concept.

Fully Specified Name (FSN)

B1 variant hexosaminidase a deficiency (disorder)

Shortest Term

B1 variant hexosaminidase a 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

B1 variant hexosaminidase a deficiency (disorder)

SCTID: 238024005, Primitive, Active

238024005|B1 variant hexosaminidase a deficiency (disorder)|

en B1 variant hexosaminidase a deficiency (disorder)
en B1 variant hexosaminidase a deficiency

Expression

238024005 |B1 variant hexosaminidase a deficiency (disorder)|
 <<< 111385000 |Tay-sachs disease (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
626845014 - B1 variant hexosaminidase A deficiency (disorder) (en) View
626845014	en	Fully specified name (core metadata concept)	B1 variant hexosaminidase A deficiency (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
356761010 - B1 variant hexosaminidase A deficiency (en) View
356761010	en	Synonym (core metadata concept)	B1 variant hexosaminidase A deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (527068022) - 238024005 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (527069025) - 238024005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (53672029) - 238024005 -> 111385000 (116680003) View
116680003 \|Is a (attribute)\|	111385000 \|Tay-sachs disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
111385000 View
111385000	Tay-sachs disease (disorder)	Tsd	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 (62c66950-435e-5df7-9202-7d3cc7643885) 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)\|

Terminology chevron_right Concepts chevron_right 238024005

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches