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Terminology chevron_right Concepts chevron_right 253171007

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Component

253171007

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital malformation of cerebellum (disorder)

Shortest Term

Dysgenesis of the 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

Congenital malformation of cerebellum (disorder)

SCTID: 253171007, Defined, Active

253171007|Congenital malformation of cerebellum (disorder)|

en Congenital malformation of cerebellum
en Congenital malformation of cerebellum (disorder)

Expression

253171007 |Congenital malformation of cerebellum (disorder)|
 === 223176004 |Cerebellar disorder (disorder)| + 
57148006 |Congenital anomaly of brain (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 113305005 |Cerebellar 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
5475959010 - Congenital malformation of cerebellum (en) View
5475959010	en	Synonym (core metadata concept)	Congenital malformation of cerebellum	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
5475958019 - Congenital malformation of cerebellum (disorder) (en) View
5475958019	en	Fully specified name (core metadata concept)	Congenital malformation of cerebellum (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
377063012 - Dysgenesis of the cerebellum (en) View
377063012	en	Synonym (core metadata concept)	Dysgenesis of the cerebellum	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	False
643898012 - Dysgenesis of the cerebellum (disorder) (en) View
643898012	en	Fully specified name (core metadata concept)	Dysgenesis of the cerebellum (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (5000792026) - 253171007 -> 287080001 (116680003) View
116680003 \|Is a (attribute)\|	287080001 \|Congenital anomaly of nervous system of head/neck (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (568575026) - 253171007 -> 113305005 (363698007) View
363698007 \|Finding site (attribute)\|	113305005 \|Cerebellar structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4973450025) - 253171007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4973451026) - 253171007 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4973452022) - 253171007 -> 113305005 (363698007) View
363698007 \|Finding site (attribute)\|	113305005 \|Cerebellar structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6125390023) - 253171007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10533408026) - 253171007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10533409023) - 253171007 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (568574027) - 253171007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3437485022) - 253171007 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3437486023) - 253171007 -> 113305005 (363698007) View
363698007 \|Finding site (attribute)\|	113305005 \|Cerebellar structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3245854020) - 253171007 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3245855021) - 253171007 -> 113305005 (363698007) View
363698007 \|Finding site (attribute)\|	113305005 \|Cerebellar structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3207126025) - 253171007 -> 371519002 (116676008) View
116676008 \|Associated morphology (attribute)\|	371519002 \|Congenital developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2578723026) - 253171007 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2715367027) - 253171007 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2715368021) - 253171007 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2738810021) - 253171007 -> 88425004 (116680003) View
116680003 \|Is a (attribute)\|	88425004 \|Congenital anomaly of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3185815022) - 253171007 -> 57148006 (116680003) View
116680003 \|Is a (attribute)\|	57148006 \|Congenital anomaly of brain (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2738814028) - 253171007 -> 301766008 (116680003) View
116680003 \|Is a (attribute)\|	301766008 \|Lesion of brain (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2534893028) - 253171007 -> 57148006 (116680003) View
116680003 \|Is a (attribute)\|	57148006 \|Congenital anomaly of brain (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (73000020) - 253171007 -> 88425004 (116680003) View
116680003 \|Is a (attribute)\|	88425004 \|Congenital anomaly of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (73002028) - 253171007 -> 87290003 (116680003) View
116680003 \|Is a (attribute)\|	87290003 \|Congenital anomaly of head (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (73001024) - 253171007 -> 81308009 (116680003) View
116680003 \|Is a (attribute)\|	81308009 \|Disorder of brain (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2220911024) - 253171007 -> 223176004 (116680003) View
116680003 \|Is a (attribute)\|	223176004 \|Cerebellar disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
223176004 View
223176004	Cerebellar disorder (disorder)	Cerebellar disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
57148006 View
57148006	Congenital anomaly of brain (disorder)	Deformity of brain	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1237366005 View
1237366005	Aprosencephaly cerebellar dysgenesis (disorder)	Aprosencephaly cerebellar dysgenesis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1187215002 View
1187215002	Tubulinopathy-associated dysgyria (disorder)	Tubulinopathy-associated dysgyria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1172594000 View
1172594000	Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome (disorder)	Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
253182004 View
253182004	Dentate dysplasia (disorder)	Dentate dysplasia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
773610007 View
773610007	Chudley mccullough syndrome (disorder)	Chudley mccullough syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763344007 View
763344007	Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome (disorder)	Poretti boltshauser syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
765089003 View
765089003	Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)	Focal epilepsy, intellectual disability, dysarthria, ataxia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733033001 View
733033001	Spinocerebellar ataxia dysmorphism syndrome (disorder)	Spinocerebellar ataxia dysmorphism syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715369006 View
715369006	Autosomal recessive cerebelloparenchymal disorder type 3 (disorder)	Cerebelloparenchymal disorder iii	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
204049003 View
204049003	Aplasia of cerebellum (disorder)	Cerebellar aplasia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
16026008 View
16026008	Congenital cerebellar hypoplasia (disorder)	Cerebellar hypoplasia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
92904001 View
92904001	Congenital abnormal shape of cerebellum (disorder)	Congenital misshapen cerebellum	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
253179009 View
253179009	Cerebellar cortical dysplasia (disorder)	Cerebellar cortical dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
253184003 View
253184003	Chiari malformation (disorder)	Dị tật chiari	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 (f7a79b7b-ee15-5438-a183-db40401386b1) 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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