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Terminology chevron_right Concepts chevron_right 702450004

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Component

702450004

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital variant of rett syndrome (disorder)

Shortest Term

Foxg1 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

Congenital variant of rett syndrome (disorder)

SCTID: 702450004, Primitive, Active

702450004|Congenital variant of rett syndrome (disorder)|

en Foxg1 syndrome
en Foxg1 syndrome (disorder)

Expression

702450004 |Congenital variant of rett syndrome (disorder)|
 <<< 11164009 |Autosomal dominant hereditary disorder (disorder)| + 
363235000 |Hereditary disorder of nervous system (disorder)| + 
35919005 |Pervasive developmental disorder (disorder)| + 
57148006 |Congenital anomaly of brain (disorder)| + 
363070008 |Developmental hereditary disorder (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
2995641011 - Congenital variant of Rett syndrome (en) View
2995641011	en	Synonym (core metadata concept)	Congenital variant of Rett syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
2995234010 - Congenital variant of Rett syndrome (disorder) (en) View
2995234010	en	Fully specified name (core metadata concept)	Congenital variant of Rett syndrome (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	False
2995373012 - FOXG1 syndrome (en) View
2995373012	en	Synonym (core metadata concept)	FOXG1 syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
3038730013 - FOXG1 syndrome (disorder) (en) View
3038730013	en	Fully specified name (core metadata concept)	FOXG1 syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13069821025) - 702450004 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4968721021) - 702450004 -> 66091009 (116680003) View
116680003 \|Is a (attribute)\|	66091009 \|Congenital disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4968722025) - 702450004 -> 81308009 (116680003) View
116680003 \|Is a (attribute)\|	81308009 \|Disorder of brain (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4968726027) - 702450004 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11578485029) - 702450004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12089207027) - 702450004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12089208021) - 702450004 -> 57148006 (116680003) View
116680003 \|Is a (attribute)\|	57148006 \|Congenital anomaly of brain (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12089209029) - 702450004 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12089210023) - 702450004 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4968725028) - 702450004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4968720022) - 702450004 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4968723024) - 702450004 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4968724029) - 702450004 -> 35919005 (116680003) View
116680003 \|Is a (attribute)\|	35919005 \|Pervasive developmental disorder (disorder)\|	0	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
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
35919005 View
35919005	Pervasive developmental disorder (disorder)	Autism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
57148006 View
57148006	Congenital anomaly of brain (disorder)	Deformity of brain	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363235000 View
363235000	Hereditary disorder of nervous system (disorder)	Hereditary disorder of nervous 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 (54d6c925-4253-5809-a442-11d067173e06) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q07.8	TRUE	ALWAYS Q07.8	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)\|
ExtendedMap object (9d0424d2-a5e6-5a1b-bcc2-488e38dc407c) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	F71.1	IFA 702356009 \| X-linked mental retardation, syndromic 13 (disorder) \|	IF X-LINKED MENTAL RETARDATION, SYNDROMIC 13 CHOOSE F71.1 \| MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447639009 \|Map of source concept is context dependent (foundation metadata concept)\|
ExtendedMap object (f3d70053-126b-532c-b029-9c779a5d7e13) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q07.8	OTHERWISE TRUE	ALWAYS Q07.8	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)\|

Terminology chevron_right Concepts chevron_right 702450004

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