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Terminology chevron_right Concepts chevron_right 1295529002

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Component

1295529002

The component that hold information about this concept.

Fully Specified Name (FSN)

Xp21 deletion syndrome (disorder)

Shortest Term

Xp21 deletion syndrome

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

Xp21 deletion syndrome (disorder)

SCTID: 1295529002, Primitive, Active

1295529002|Xp21 deletion syndrome (disorder)|

en Complex gkd (complex glycerol kinase deficiency)
en Complex glycerol kinase deficiency
en Xp21 contiguous gene deletion syndrome
en Xp21 deletion syndrome
en Xp21 deletion syndrome (disorder)
en Xp21 microdeletion syndrome

Expression

1295529002 |Xp21 deletion syndrome (disorder)|
 <<< 111312006 |Anomaly of chromosome x (disorder)| + 
124322002 |Deficiency of glycerol kinase (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
363104002 |Hereditary disorder of endocrine system (disorder)| + 
86095007 |Inborn error of metabolism (disorder)| + 
93235007 |Congenital hypoplasia of adrenal gland (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 55199003 |Hypoplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 68594002 |Adrenal cortex structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 737543005 |Deletion (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 278145009 |Short arm of chromosome (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 737543005 |Deletion (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 72837006 |Sex chromosome x (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5283921012 - Complex GKD (complex glycerol kinase deficiency) (en) View
5283921012	en	Synonym (core metadata concept)	Complex GKD (complex glycerol kinase deficiency)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
5283922017 - Complex glycerol kinase deficiency (en) View
5283922017	en	Synonym (core metadata concept)	Complex glycerol kinase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
5283918010 - Xp21 contiguous gene deletion syndrome (en) View
5283918010	en	Synonym (core metadata concept)	Xp21 contiguous gene deletion syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
5283920013 - Xp21 deletion syndrome (en) View
5283920013	en	Synonym (core metadata concept)	Xp21 deletion syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
5283919019 - Xp21 deletion syndrome (disorder) (en) View
5283919019	en	Fully specified name (core metadata concept)	Xp21 deletion syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
5283917017 - Xp21 microdeletion syndrome (en) View
5283917017	en	Synonym (core metadata concept)	Xp21 microdeletion syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15806964020) - 1295529002 -> 111312006 (116680003) View
116680003 \|Is a (attribute)\|	111312006 \|Anomaly of chromosome x (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15806965021) - 1295529002 -> 124322002 (116680003) View
116680003 \|Is a (attribute)\|	124322002 \|Deficiency of glycerol kinase (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15806966022) - 1295529002 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15806967029) - 1295529002 -> 363104002 (116680003) View
116680003 \|Is a (attribute)\|	363104002 \|Hereditary disorder of endocrine system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15806968023) - 1295529002 -> 86095007 (116680003) View
116680003 \|Is a (attribute)\|	86095007 \|Inborn error of metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15806969026) - 1295529002 -> 93235007 (116680003) View
116680003 \|Is a (attribute)\|	93235007 \|Congenital hypoplasia of adrenal gland (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15806970025) - 1295529002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15806971026) - 1295529002 -> 68594002 (363698007) View
363698007 \|Finding site (attribute)\|	68594002 \|Adrenal cortex structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15806972022) - 1295529002 -> 55199003 (116676008) View
116676008 \|Associated morphology (attribute)\|	55199003 \|Hypoplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15806973028) - 1295529002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15806974023) - 1295529002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15806975024) - 1295529002 -> 278145009 (363698007) View
363698007 \|Finding site (attribute)\|	278145009 \|Short arm of chromosome (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15806976020) - 1295529002 -> 737543005 (116676008) View
116676008 \|Associated morphology (attribute)\|	737543005 \|Deletion (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15806977027) - 1295529002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15806978021) - 1295529002 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15806979029) - 1295529002 -> 737543005 (116676008) View
116676008 \|Associated morphology (attribute)\|	737543005 \|Deletion (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
111312006 View
111312006	Anomaly of chromosome x (disorder)	Anomaly of chromosome x	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
86095007 View
86095007	Inborn error of metabolism (disorder)	Inborn error of metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
93235007 View
93235007	Congenital hypoplasia of adrenal gland (disorder)	Congenital adrenal hypoplasia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
124322002 View
124322002	Deficiency of glycerol kinase (disorder)	Gk1 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363104002 View
363104002	Hereditary disorder of endocrine system (disorder)	Hereditary disorder of endocrine system	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 (0aabf0ca-1a1b-5f74-a367-2348751582d4) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q99.8	TRUE	ALWAYS Q99.8 \| 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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