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Terminology chevron_right Concepts chevron_right 204036008

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Component

204036008

The component that hold information about this concept.

Fully Specified Name (FSN)

Lissencephaly (disorder)

Shortest Term

Agyria

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

Lissencephaly (disorder)

SCTID: 204036008, Primitive, Active

204036008|Lissencephaly (disorder)|

en Agyria
en Lissencephaly
en Lissencephaly (disorder)
en Lissencephaly pachygyria
en Lissencephaly syndrome

Expression

204036008 |Lissencephaly (disorder)|
 <<< 253146009 |Disorder of neuronal migration and differentiation (disorder)| + 
57148006 |Congenital anomaly of brain (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 12738006 |Brain 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
312883015 - Agyria (en) View
312883015	en	Synonym (core metadata concept)	Agyria	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
312882013 - Lissencephaly (en) View
312882013	en	Synonym (core metadata concept)	Lissencephaly	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
589208018 - Lissencephaly (disorder) (en) View
589208018	en	Fully specified name (core metadata concept)	Lissencephaly (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
312884014 - Lissencephaly pachygyria (en) View
312884014	en	Synonym (core metadata concept)	Lissencephaly pachygyria	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
312885010 - Lissencephaly syndrome (en) View
312885010	en	Synonym (core metadata concept)	Lissencephaly syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (2693358020) - 204036008 -> 57148006 (116680003) View
116680003 \|Is a (attribute)\|	57148006 \|Congenital anomaly of brain (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3309755020) - 204036008 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4990614023) - 204036008 -> 81308009 (116680003) View
116680003 \|Is a (attribute)\|	81308009 \|Disorder of brain (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6028218028) - 204036008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6028219020) - 204036008 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6028220025) - 204036008 -> 21483005 (363698007) View
363698007 \|Finding site (attribute)\|	21483005 \|Structure of central nervous system (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9619242029) - 204036008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10514218021) - 204036008 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10514219029) - 204036008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4981058029) - 204036008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4981059021) - 204036008 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4981060027) - 204036008 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (468470029) - 204036008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (468469025) - 204036008 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2569062024) - 204036008 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3309756021) - 204036008 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (23205021) - 204036008 -> 81308009 (116680003) View
116680003 \|Is a (attribute)\|	81308009 \|Disorder of brain (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2569061028) - 204036008 -> 21483005 (363698007) View
363698007 \|Finding site (attribute)\|	21483005 \|Structure of central nervous system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (23204020) - 204036008 -> 87290003 (116680003) View
116680003 \|Is a (attribute)\|	87290003 \|Congenital anomaly of head (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (23206022) - 204036008 -> 253146009 (116680003) View
116680003 \|Is a (attribute)\|	253146009 \|Disorder of neuronal migration and differentiation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
57148006 View
57148006	Congenital anomaly of brain (disorder)	Deformity of brain	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
253146009 View
253146009	Disorder of neuronal migration and differentiation (disorder)	Disorder of neuronal migration and differentiation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1003374009 View
1003374009	Microlissencephaly (disorder)	Microlissencephaly	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1003444000 View
1003444000	Type 3 lissencephaly (disorder)	Type 3 lissencephaly	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
723405001 View
723405001	Microlissencephaly micromelia syndrome (disorder)	Basel vanagaite sirota syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
718720007 View
718720007	Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	Lissencephaly type 3 metacarpal bone dysplasia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
718759003 View
718759003	Lissencephaly due to tubulin alpha 1a mutation (disorder)	Lissencephaly due to tubulin alpha 1a mutation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715422002 View
715422002	Craniotelencephalic dysplasia (disorder)	Craniotelencephalic dysplasia	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
717632002 View
717632002	X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder)	X-linked lissencephaly with ambiguous genitalia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
253147000 View
253147000	Type 1 lissencephaly (disorder)	Type 1 lissencephaly	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
253149002 View
253149002	Type 2 lissencephaly (disorder)	Type 2 lissencephaly	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 (fb17e28d-c970-5981-b699-90b2fb6cb1dd) 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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