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Terminology chevron_right Concepts chevron_right 1237366005

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Component

1237366005

The component that hold information about this concept.

Fully Specified Name (FSN)

Aprosencephaly cerebellar dysgenesis (disorder)

Shortest Term

Aprosencephaly cerebellar dysgenesis

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

Aprosencephaly cerebellar dysgenesis (disorder)

SCTID: 1237366005, Primitive, Active

1237366005|Aprosencephaly cerebellar dysgenesis (disorder)|

en Aprosencephaly cerebellar dysgenesis
en Aprosencephaly cerebellar dysgenesis (disorder)

Expression

1237366005 |Aprosencephaly cerebellar dysgenesis (disorder)|
 <<< 253171007 |Congenital malformation of cerebellum (disorder)| + 
253180007 |Dysgenesis of the brainstem (disorder)| + 
277922001 |Aprosencephaly (disorder)| + 
782964007 |Genetic disease (disorder)| + 
95641009 |Disorder of midbrain (disorder)| + 
11701009 |Hemicephaly (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 418560003 |Absence (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 11628009 |Structure of telencephalon (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 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)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 61962009 |Midbrain structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 87563008 |Structure of diencephalon (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
5098005018 - Aprosencephaly cerebellar dysgenesis (en) View
5098005018	en	Synonym (core metadata concept)	Aprosencephaly cerebellar dysgenesis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
5098006017 - Aprosencephaly cerebellar dysgenesis (disorder) (en) View
5098006017	en	Fully specified name (core metadata concept)	Aprosencephaly cerebellar dysgenesis (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15295382025) - 1237366005 -> 26595007 (116680003) View
116680003 \|Is a (attribute)\|	26595007 \|Congenital absence of part of brain (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16327486029) - 1237366005 -> 11701009 (116680003) View
116680003 \|Is a (attribute)\|	11701009 \|Hemicephaly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15295380022) - 1237366005 -> 253171007 (116680003) View
116680003 \|Is a (attribute)\|	253171007 \|Congenital malformation of cerebellum (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15295381021) - 1237366005 -> 253180007 (116680003) View
116680003 \|Is a (attribute)\|	253180007 \|Dysgenesis of the brainstem (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15295383024) - 1237366005 -> 277922001 (116680003) View
116680003 \|Is a (attribute)\|	277922001 \|Aprosencephaly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15295384029) - 1237366005 -> 782964007 (116680003) View
116680003 \|Is a (attribute)\|	782964007 \|Genetic disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15295386027) - 1237366005 -> 95641009 (116680003) View
116680003 \|Is a (attribute)\|	95641009 \|Disorder of midbrain (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15295387020) - 1237366005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15295388026) - 1237366005 -> 11628009 (363698007) View
363698007 \|Finding site (attribute)\|	11628009 \|Structure of telencephalon (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15295389023) - 1237366005 -> 418560003 (116676008) View
116676008 \|Associated morphology (attribute)\|	418560003 \|Absence (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15295390025) - 1237366005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15295391026) - 1237366005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15295392022) - 1237366005 -> 113305005 (363698007) View
363698007 \|Finding site (attribute)\|	113305005 \|Cerebellar structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15295393028) - 1237366005 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15295394023) - 1237366005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15295395024) - 1237366005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15295396020) - 1237366005 -> 61962009 (363698007) View
363698007 \|Finding site (attribute)\|	61962009 \|Midbrain structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15295397027) - 1237366005 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15295398021) - 1237366005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15295399029) - 1237366005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15295400020) - 1237366005 -> 87563008 (363698007) View
363698007 \|Finding site (attribute)\|	87563008 \|Structure of diencephalon (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15295401024) - 1237366005 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15295402028) - 1237366005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
11701009 View
11701009	Hemicephaly (disorder)	Hemicephaly	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
782964007 View
782964007	Genetic disease (disorder)	Genetic disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
253180007 View
253180007	Dysgenesis of the brainstem (disorder)	Dysgenesis of the brainstem	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
253171007 View
253171007	Congenital malformation of cerebellum (disorder)	Dysgenesis of the cerebellum	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
95641009 View
95641009	Disorder of midbrain (disorder)	Midbrain disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
277922001 View
277922001	Aprosencephaly (disorder)	Aprosencephaly	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 (25f2c1f1-ad82-504a-b8bb-6a181a319fa4) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q04.3	TRUE	ALWAYS Q04.3 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	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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