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Terminology chevron_right Concepts chevron_right 783176002

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Component

783176002

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital muscular dystrophy with cerebellar involvement (disorder)

Shortest Term

Congenital muscular dystrophy with cerebellar involvement

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

Congenital muscular dystrophy with cerebellar involvement (disorder)

SCTID: 783176002, Primitive, Active

783176002|Congenital muscular dystrophy with cerebellar involvement (disorder)|

en Congenital muscular dystrophy with cerebellar involvement
en Congenital muscular dystrophy with cerebellar involvement (disorder)

Expression

783176002 |Congenital muscular dystrophy with cerebellar involvement (disorder)|
 <<< 128190004 |Inherited metabolic disorder of nervous system (disorder)| + 
111501005 |Congenital hereditary muscular dystrophy (disorder)| + 
128289001 |Chronic metabolic disorder (disorder)| + 
78689005 |Chronic brain syndrome (disorder)| + 
16026008 |Congenital cerebellar hypoplasia (disorder)| + 
277949001 |Combined malformation of central nervous system and skeletal muscle (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 4720007 |Dystrophy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 127954009 |Skeletal muscle structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 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)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3757960011 - Congenital muscular dystrophy with cerebellar involvement (en) View
3757960011	en	Synonym (core metadata concept)	Congenital muscular dystrophy with cerebellar involvement	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3757962015 - Congenital muscular dystrophy with cerebellar involvement (disorder) (en) View
3757962015	en	Fully specified name (core metadata concept)	Congenital muscular dystrophy with cerebellar involvement (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (11280753025) - 783176002 -> 113305005 (363698007) View
363698007 \|Finding site (attribute)\|	113305005 \|Cerebellar structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11280754020) - 783176002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11280755021) - 783176002 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11280756022) - 783176002 -> 55199003 (116676008) View
116676008 \|Associated morphology (attribute)\|	55199003 \|Hypoplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11280757029) - 783176002 -> 16026008 (116680003) View
116680003 \|Is a (attribute)\|	16026008 \|Congenital cerebellar hypoplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11280758023) - 783176002 -> 277949001 (116680003) View
116680003 \|Is a (attribute)\|	277949001 \|Combined malformation of central nervous system and skeletal muscle (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11280759026) - 783176002 -> 128190004 (116680003) View
116680003 \|Is a (attribute)\|	128190004 \|Inherited metabolic disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11280760020) - 783176002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11280761024) - 783176002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11280762028) - 783176002 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11280763022) - 783176002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11284011026) - 783176002 -> 111501005 (116680003) View
116680003 \|Is a (attribute)\|	111501005 \|Congenital hereditary muscular dystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11284012022) - 783176002 -> 128289001 (116680003) View
116680003 \|Is a (attribute)\|	128289001 \|Chronic metabolic disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11284013028) - 783176002 -> 78689005 (116680003) View
116680003 \|Is a (attribute)\|	78689005 \|Chronic brain syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11578339026) - 783176002 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
128190004 View
128190004	Inherited metabolic disorder of nervous system (disorder)	Inherited metabolic disorder of nervous system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
111501005 View
111501005	Congenital hereditary muscular dystrophy (disorder)	Benign congenital myopathy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
277949001 View
277949001	Combined malformation of central nervous system and skeletal muscle (disorder)	Combined malformation of central nervous system and muscle	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
78689005 View
78689005	Chronic brain syndrome (disorder)	Chronic brain syndrome	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
128289001 View
128289001	Chronic metabolic disorder (disorder)	Chronic metabolic disease	900000000000073002 \|Sufficiently defined by necessary conditions 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 (9f15afca-036d-5734-81cf-3952fb08e53d) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G71.2	TRUE	ALWAYS G71.2 \| 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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