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Terminology chevron_right Concepts chevron_right 253172000

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Component

253172000

The component that hold information about this concept.

Fully Specified Name (FSN)

Agenesis of cerebellum (disorder)

Shortest Term

Agenesis of cerebellum

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Agenesis of cerebellum (disorder)

SCTID: 253172000, Defined, Active

253172000|Agenesis of cerebellum (disorder)|

en Agenesis of cerebellum
en Agenesis of cerebellum (disorder)
en Congenital absence of cerebellum
en Total agenesis of cerebellum

Expression

253172000 |Agenesis of cerebellum (disorder)|
 === 204049003 |Aplasia of cerebellum (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 782173000 |Agenesis (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 180924008 |Entire cerebellum (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
377064018 - Agenesis of cerebellum (en) View
377064018	en	Synonym (core metadata concept)	Agenesis of cerebellum	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
643899016 - Agenesis of cerebellum (disorder) (en) View
643899016	en	Fully specified name (core metadata concept)	Agenesis of cerebellum (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
377065017 - Congenital absence of cerebellum (en) View
377065017	en	Synonym (core metadata concept)	Congenital absence of cerebellum	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
377066016 - Total agenesis of cerebellum (en) View
377066016	en	Synonym (core metadata concept)	Total agenesis of cerebellum	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (5001083028) - 253172000 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5004646028) - 253172000 -> 26595007 (116680003) View
116680003 \|Is a (attribute)\|	26595007 \|Congenital absence of part of brain (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10514177028) - 253172000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11151647020) - 253172000 -> 782173000 (116676008) View
116676008 \|Associated morphology (attribute)\|	782173000 \|Agenesis (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5001082022) - 253172000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5001084023) - 253172000 -> 113305005 (363698007) View
363698007 \|Finding site (attribute)\|	113305005 \|Cerebellar structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5981583025) - 253172000 -> 180924008 (363698007) View
363698007 \|Finding site (attribute)\|	180924008 \|Entire cerebellum (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (568577023) - 253172000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3180280026) - 253172000 -> 75076004 (116680003) View
116680003 \|Is a (attribute)\|	75076004 \|Amyelencephalus (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3427839022) - 253172000 -> 113305005 (363698007) View
363698007 \|Finding site (attribute)\|	113305005 \|Cerebellar structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3427840024) - 253172000 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (568576025) - 253172000 -> 113305005 (363698007) View
363698007 \|Finding site (attribute)\|	113305005 \|Cerebellar structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2715369029) - 253172000 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2738817024) - 253172000 -> 43069001 (116680003) View
116680003 \|Is a (attribute)\|	43069001 \|Cerebellar aplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3217836025) - 253172000 -> 204049003 (116680003) View
116680003 \|Is a (attribute)\|	204049003 \|Aplasia of cerebellum (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2738820027) - 253172000 -> 276654001 (116680003) View
116680003 \|Is a (attribute)\|	276654001 \|Congenital malformation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (73003022) - 253172000 -> 253171007 (116680003) View
116680003 \|Is a (attribute)\|	253171007 \|Congenital malformation of cerebellum (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2578724021) - 253172000 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
204049003 View
204049003	Aplasia of cerebellum (disorder)	Cerebellar aplasia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
724067006 View
724067006	Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)	Pancreatic and cerebellar agenesis syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715990006 View
715990006	Agenesis of cerebellum and hydrocephalus syndrome (disorder)	Cerebellum agenesis with hydrocephaly	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 (f967b7c0-5fcd-59e1-8983-e0bb93c616d9) 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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