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Terminology chevron_right Concepts chevron_right 16026008

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Component

16026008

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital cerebellar hypoplasia (disorder)

Shortest Term

Cerebellar hypoplasia

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 cerebellar hypoplasia (disorder)

SCTID: 16026008, Defined, Active

16026008|Congenital cerebellar hypoplasia (disorder)|

en Cerebellar hypoplasia
en Congenital cerebellar hypoplasia
en Congenital cerebellar hypoplasia (disorder)
en Congenital hypoplasia of cerebellum
en Congenital small cerebellum
en Hypoplasia of the cerebellum

Expression

16026008 |Congenital cerebellar hypoplasia (disorder)|
 === 78693004 |Congenital hypoplasia of part of brain (disorder)| + 
253171007 |Congenital malformation of cerebellum (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 55199003 |Hypoplasia (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
27132011 - Cerebellar hypoplasia (en) View
27132011	en	Synonym (core metadata concept)	Cerebellar hypoplasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
27131016 - Congenital cerebellar hypoplasia (en) View
27131016	en	Synonym (core metadata concept)	Congenital cerebellar hypoplasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
742969019 - Congenital cerebellar hypoplasia (disorder) (en) View
742969019	en	Fully specified name (core metadata concept)	Congenital cerebellar hypoplasia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
27133018 - Congenital hypoplasia of cerebellum (en) View
27133018	en	Synonym (core metadata concept)	Congenital hypoplasia of cerebellum	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
27134012 - Congenital small cerebellum (en) View
27134012	en	Synonym (core metadata concept)	Congenital small cerebellum	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1221252015 - Hypoplasia of the cerebellum (en) View
1221252015	en	Synonym (core metadata concept)	Hypoplasia of the cerebellum	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (4973264027) - 16026008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4973266025) - 16026008 -> 113305005 (363698007) View
363698007 \|Finding site (attribute)\|	113305005 \|Cerebellar structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5002872024) - 16026008 -> 55199003 (116676008) View
116676008 \|Associated morphology (attribute)\|	55199003 \|Hypoplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5864099020) - 16026008 -> 55199003 (116676008) View
116676008 \|Associated morphology (attribute)\|	55199003 \|Hypoplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5864100028) - 16026008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5864101029) - 16026008 -> 113305005 (363698007) View
363698007 \|Finding site (attribute)\|	113305005 \|Cerebellar structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10530168024) - 16026008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (709446024) - 16026008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3345862029) - 16026008 -> 113305005 (363698007) View
363698007 \|Finding site (attribute)\|	113305005 \|Cerebellar structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3345863023) - 16026008 -> 38146002 (116676008) View
116676008 \|Associated morphology (attribute)\|	38146002 \|Congenital hypoplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (709441025) - 16026008 -> 38146002 (116676008) View
116676008 \|Associated morphology (attribute)\|	38146002 \|Congenital hypoplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (709444022) - 16026008 -> 113305005 (363698007) View
363698007 \|Finding site (attribute)\|	113305005 \|Cerebellar structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3202729022) - 16026008 -> 371519002 (116676008) View
116676008 \|Associated morphology (attribute)\|	371519002 \|Congenital developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3202730028) - 16026008 -> 113305005 (363698007) View
363698007 \|Finding site (attribute)\|	113305005 \|Cerebellar structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (709442021) - 16026008 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (709445023) - 16026008 -> 21483005 (363698007) View
363698007 \|Finding site (attribute)\|	21483005 \|Structure of central nervous system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (172165021) - 16026008 -> 78693004 (116680003) View
116680003 \|Is a (attribute)\|	78693004 \|Congenital hypoplasia of part of brain (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (172166022) - 16026008 -> 253171007 (116680003) View
116680003 \|Is a (attribute)\|	253171007 \|Congenital malformation of cerebellum (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
253171007 View
253171007	Congenital malformation of cerebellum (disorder)	Dysgenesis of the cerebellum	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
78693004 View
78693004	Congenital hypoplasia of part of brain (disorder)	Congenital hypoplasia of part of brain	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1144389005 View
1144389005	Congenital hypoplasia of inferior vermis (disorder)	Congenital hypoplasia of inferior vermis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1237475006 View
1237475006	Cerebellar-facial-dental syndrome (disorder)	Cerebellofaciodental syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1229876001 View
1229876001	Lethal brain and heart developmental defects syndrome (disorder)	Lethal brain and heart developmental defects syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1217228004 View
1217228004	X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome (disorder)	X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1208727002 View
1208727002	Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder)	Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1177169004 View
1177169004	Congenital cerebellar ataxia due to rna, u12 small nuclear mutation (disorder)	Congenital cerebellar ataxia due to rnu12 mutation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
782753000 View
782753000	Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome (disorder)	Autosomal recessive spinocerebellar ataxia type 20	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783176002 View
783176002	Congenital muscular dystrophy with cerebellar involvement (disorder)	Congenital muscular dystrophy with cerebellar involvement	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783703004 View
783703004	White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome (disorder)	Curatolo cilio pessagno syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
770604006 View
770604006	X-linked cerebral, cerebellar, coloboma syndrome (disorder)	X-linked intellectual disability kroes type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
771234002 View
771234002	Isolated bilateral hemispheric cerebellar hypoplasia (disorder)	Isolated bilateral hemispheric cerebellar hypoplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773497001 View
773497001	Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome (disorder)	Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763821001 View
763821001	Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder)	Bonnemann meinecke syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
764732004 View
764732004	Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder)	Zaki gleeson syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
766709000 View
766709000	Isolated hypoplasia of cerebellar vermis (disorder)	Isolated cerebellar vermis hypoplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
766934006 View
766934006	Isolated unilateral hemispheric cerebellar hypoplasia (disorder)	Isolated unilateral hemispheric cerebellar hypoplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719136005 View
719136005	X-linked intellectual disability with cerebellar hypoplasia syndrome (disorder)	Ophn1 syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715436007 View
715436007	Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)	Cerebellar hypoplasia and tapetoretinal degeneration	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715817007 View
715817007	Lissencephaly co-occurrent with congenital cerebellar hypoplasia (disorder)	Lissencephaly with cerebellar hypoplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
45163000 View
45163000	Congenital pontocerebellar hypoplasia (disorder)	Congenital pontocerebellar hypoplasia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
14447001 View
14447001	Dandy-walker syndrome (disorder)	Dandy-walker syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
39574006 View
39574006	Congenital hypoplasia of inner granular layer of cerebellum (disorder)	Congenital hypoplasia of inner granular layer of cerebellum	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
253178001 View
253178001	Granular cell hypoplasia (disorder)	Granular cell hypoplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254132000 View
254132000	Endosteal hyperostoses with cerebellar hypoplasia (disorder)	Endosteal hyperostoses with cerebellar hypoplasia	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 (f0daae95-29fe-5518-b77b-85df46c4e9e1) 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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