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Terminology chevron_right Concepts chevron_right 1237625002

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1237625002

The component that hold information about this concept.

Fully Specified Name (FSN)

Autosomal recessive cerebellar ataxia due to cwf19 like cell cycle control factor 1 deficiency (disorder)

Shortest Term

Scar17 - spinocerebellar ataxia autosomal recessive type 17

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

Autosomal recessive cerebellar ataxia due to cwf19 like cell cycle control factor 1 deficiency (disorder)

SCTID: 1237625002, Primitive, Active

1237625002|Autosomal recessive cerebellar ataxia due to cwf19 like cell cycle control factor 1 deficiency (disorder)|

en Autosomal recessive cerebellar ataxia due to cwf19l1 deficiency
en Autosomal recessive cerebellar ataxia due to cwf19 like cell cycle control factor 1 deficiency
en Autosomal recessive cerebellar ataxia due to cwf19 like cell cycle control factor 1 deficiency (disorder)
en Scar17 - spinocerebellar ataxia autosomal recessive type 17

Expression

1237625002 |Autosomal recessive cerebellar ataxia due to cwf19 like cell cycle control factor 1 deficiency (disorder)|
 <<< 224958001 |Global developmental delay (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
37650008 |Hereditary cerebellar degeneration (disorder)| + 
763597000 |Hereditary ataxia (disorder)| + 
78689005 |Chronic brain syndrome (disorder)| + 
85102008 |Cerebellar ataxia (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
1119356001 |Progressive truncal ataxia (finding)| + 
1362108000 |Genetic intellectual disability (disorder)| + 
1137472008 |Neurodevelopmental delay (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 13331008 |Atrophy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 113305005 |Cerebellar structure (body structure)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
363714003 |Interprets (attribute)| = 247573007 |Intellectual ability (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
363714003 |Interprets (attribute)| = 406208005 |Adaptation behavior (observable entity)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (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
5100109010 - Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency (en) View
5100109010	en	Synonym (core metadata concept)	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
5100112013 - Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (en) View
5100112013	en	Synonym (core metadata concept)	Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
5100107012 - Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder) (en) View
5100107012	en	Fully specified name (core metadata concept)	Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
5100110017 - SCAR17 - spinocerebellar ataxia autosomal recessive type 17 (en) View
5100110017	en	Synonym (core metadata concept)	SCAR17 - spinocerebellar ataxia autosomal recessive type 17	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16407879023) - 1237625002 -> 1137472008 (116680003) View
116680003 \|Is a (attribute)\|	1137472008 \|Neurodevelopmental delay (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15299674028) - 1237625002 -> 110359009 (116680003) View
116680003 \|Is a (attribute)\|	110359009 \|Intellectual disability\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16316941027) - 1237625002 -> 1362108000 (116680003) View
116680003 \|Is a (attribute)\|	1362108000 \|Genetic intellectual disability (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15299676026) - 1237625002 -> 250067008 (116680003) View
116680003 \|Is a (attribute)\|	250067008 \|Truncal ataxia (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16286737029) - 1237625002 -> 1119356001 (116680003) View
116680003 \|Is a (attribute)\|	1119356001 \|Progressive truncal ataxia (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15299675027) - 1237625002 -> 224958001 (116680003) View
116680003 \|Is a (attribute)\|	224958001 \|Global developmental delay (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15299677024) - 1237625002 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15299678025) - 1237625002 -> 37650008 (116680003) View
116680003 \|Is a (attribute)\|	37650008 \|Hereditary cerebellar degeneration (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15299679022) - 1237625002 -> 763597000 (116680003) View
116680003 \|Is a (attribute)\|	763597000 \|Hereditary ataxia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15299680020) - 1237625002 -> 78689005 (116680003) View
116680003 \|Is a (attribute)\|	78689005 \|Chronic brain syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15299681024) - 1237625002 -> 85102008 (116680003) View
116680003 \|Is a (attribute)\|	85102008 \|Cerebellar ataxia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15299682028) - 1237625002 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15299683022) - 1237625002 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15299684027) - 1237625002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15299685026) - 1237625002 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15299686025) - 1237625002 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15299687023) - 1237625002 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15299688029) - 1237625002 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15299689021) - 1237625002 -> 113305005 (363698007) View
363698007 \|Finding site (attribute)\|	113305005 \|Cerebellar structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15299690028) - 1237625002 -> 13331008 (116676008) View
116676008 \|Associated morphology (attribute)\|	13331008 \|Atrophy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1137472008 View
1137472008	Neurodevelopmental delay (disorder)	Neurodevelopmental delay	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1362108000 View
1362108000	Genetic intellectual disability (disorder)	Genetic intellectual disability	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1119356001 View
1119356001	Progressive truncal ataxia (finding)	Progressive truncal ataxia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
85102008 View
85102008	Cerebellar ataxia (disorder)	Cerebellar ataxia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
763597000 View
763597000	Hereditary ataxia (disorder)	Hereditary ataxia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
37650008 View
37650008	Hereditary cerebellar degeneration (disorder)	Hereditary cerebellar degeneration	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
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
224958001 View
224958001	Global developmental delay (disorder)	Global developmental delay	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 (a548ff00-028b-55eb-949e-44069846e4d5) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G11.1	TRUE	ALWAYS G11.1 \| 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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