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Terminology chevron_right Concepts chevron_right 253175003

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Component

253175003

The component that hold information about this concept.

Fully Specified Name (FSN)

Familial aplasia of the vermis (disorder)

Shortest Term

Joubert syndrome

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

Familial aplasia of the vermis (disorder)

SCTID: 253175003, Primitive, Active

253175003|Familial aplasia of the vermis (disorder)|

en Familial aplasia of the vermis
en Familial aplasia of the vermis (disorder)

Expression

253175003 |Familial aplasia of the vermis (disorder)|
 <<< 253174004 |Aplasia of the vermis (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 45486003 |Aplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 58501004 |Cerebellar vermis structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
377069011 - Familial aplasia of the vermis (en) View
377069011	en	Synonym (core metadata concept)	Familial aplasia of the vermis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
643903011 - Familial aplasia of the vermis (disorder) (en) View
643903011	en	Fully specified name (core metadata concept)	Familial aplasia of the vermis (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
377070012 - Joubert syndrome (en) View
377070012	en	Synonym (core metadata concept)	Joubert syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (3534589028) - 253175003 -> 58501004 (363698007) View
363698007 \|Finding site (attribute)\|	58501004 \|Cerebellar vermis structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4975782025) - 253175003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4975783024) - 253175003 -> 45486003 (116676008) View
116676008 \|Associated morphology (attribute)\|	45486003 \|Aplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4975784029) - 253175003 -> 58501004 (363698007) View
363698007 \|Finding site (attribute)\|	58501004 \|Cerebellar vermis structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6125397021) - 253175003 -> 45486003 (116676008) View
116676008 \|Associated morphology (attribute)\|	45486003 \|Aplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6125398027) - 253175003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531372023) - 253175003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (568583021) - 253175003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3551776026) - 253175003 -> 371519002 (116676008) View
116676008 \|Associated morphology (attribute)\|	371519002 \|Congenital developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3430908029) - 253175003 -> 371519002 (116676008) View
116676008 \|Associated morphology (attribute)\|	371519002 \|Congenital developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3478896028) - 253175003 -> 58501004 (363698007) View
363698007 \|Finding site (attribute)\|	58501004 \|Cerebellar vermis structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (568582027) - 253175003 -> 58501004 (363698007) View
363698007 \|Finding site (attribute)\|	58501004 \|Cerebellar vermis structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2715373026) - 253175003 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3244676022) - 253175003 -> 113305005 (363698007) View
363698007 \|Finding site (attribute)\|	113305005 \|Cerebellar structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3257543028) - 253175003 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3193122027) - 253175003 -> 113305005 (363698007) View
363698007 \|Finding site (attribute)\|	113305005 \|Cerebellar structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3200444027) - 253175003 -> 371519002 (116676008) View
116676008 \|Associated morphology (attribute)\|	371519002 \|Congenital developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2578728024) - 253175003 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2715374021) - 253175003 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2578729027) - 253175003 -> 113305005 (363698007) View
363698007 \|Finding site (attribute)\|	113305005 \|Cerebellar structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (73006025) - 253175003 -> 253174004 (116680003) View
116680003 \|Is a (attribute)\|	253174004 \|Aplasia of the vermis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
253174004 View
253174004	Aplasia of the vermis (disorder)	Aplasia of the vermis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
716997004 View
716997004	Joubert syndrome (disorder)	Joubert syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (b4179cf6-3ca0-59c5-afff-bb1607a6dc96) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q04.3	TRUE	ALWAYS Q04.3	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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