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Terminology chevron_right Concepts chevron_right 715371006

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Component

715371006

The component that hold information about this concept.

Fully Specified Name (FSN)

Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)

Shortest Term

Cerebellar ataxia and ectodermal dysplasia

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

Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)

SCTID: 715371006, Primitive, Active

715371006|Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)|

en Cerebellar ataxia and ectodermal dysplasia
en Cerebellar ataxia co-occurrent with ectodermal dysplasia
en Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)

Expression

715371006 |Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)|
 <<< 8654005 |Ectodermal dysplasia (disorder)| + 
85102008 |Cerebellar ataxia (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
363185004 |Hereditary disorder of the integument (disorder)| + 
763597000 |Hereditary ataxia (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 39937001 |Skin structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 63206006 |Ectoderm structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 113305005 |Cerebellar structure (body structure)|,
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
3302387012 - Cerebellar ataxia and ectodermal dysplasia (en) View
3302387012	en	Synonym (core metadata concept)	Cerebellar ataxia and ectodermal dysplasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3302386015 - Cerebellar ataxia co-occurrent with ectodermal dysplasia (en) View
3302386015	en	Synonym (core metadata concept)	Cerebellar ataxia co-occurrent with ectodermal dysplasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3302385016 - Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) (en) View
3302385016	en	Fully specified name (core metadata concept)	Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6552111029) - 715371006 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13069567021) - 715371006 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10548322026) - 715371006 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11225260029) - 715371006 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6552112020) - 715371006 -> 113305005 (363698007) View
363698007 \|Finding site (attribute)\|	113305005 \|Cerebellar structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6552114021) - 715371006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6552117025) - 715371006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6552515026) - 715371006 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6552516025) - 715371006 -> 63206006 (363698007) View
363698007 \|Finding site (attribute)\|	63206006 \|Ectoderm structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6552517023) - 715371006 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6552518029) - 715371006 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10515697028) - 715371006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10515699025) - 715371006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10515701025) - 715371006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10515702021) - 715371006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10545315022) - 715371006 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10545316023) - 715371006 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10548320023) - 715371006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10548321022) - 715371006 -> 63206006 (363698007) View
363698007 \|Finding site (attribute)\|	63206006 \|Ectoderm structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10548323020) - 715371006 -> 113305005 (363698007) View
363698007 \|Finding site (attribute)\|	113305005 \|Cerebellar structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9142172029) - 715371006 -> 763597000 (116680003) View
116680003 \|Is a (attribute)\|	763597000 \|Hereditary ataxia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6552107024) - 715371006 -> 8654005 (116680003) View
116680003 \|Is a (attribute)\|	8654005 \|Ectodermal dysplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6552108025) - 715371006 -> 85102008 (116680003) View
116680003 \|Is a (attribute)\|	85102008 \|Cerebellar ataxia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6552109022) - 715371006 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6552110028) - 715371006 -> 363185004 (116680003) View
116680003 \|Is a (attribute)\|	363185004 \|Hereditary disorder of the integument (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
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
8654005 View
8654005	Ectodermal dysplasia (disorder)	Ectodermal dysplasia	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
363185004 View
363185004	Hereditary disorder of the integument (disorder)	Hereditary disorder of the integument	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 (6d355f72-211d-562c-9612-ec5a7dae6b5a) 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)\|
ExtendedMap object (d5db0c3e-f19d-50b9-9cc7-c1769a9429ad) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q82.4	TRUE	ALWAYS Q82.4	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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