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Terminology chevron_right Concepts chevron_right 239040001

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Component

239040001

The component that hold information about this concept.

Fully Specified Name (FSN)

Ectodermal dysplasia with tooth-nail defects (disorder)

Shortest Term

Ectodermal dysplasia with tooth-nail defects

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Ectodermal dysplasia with tooth-nail defects (disorder)

SCTID: 239040001, Defined, Active

239040001|Ectodermal dysplasia with tooth-nail defects (disorder)|

en Ectodermal dysplasia with tooth-nail defects
en Ectodermal dysplasia with tooth-nail defects (disorder)

Expression

239040001 |Ectodermal dysplasia with tooth-nail defects (disorder)|
 === 239046007 |Ectodermal dysplasia with nail defect (disorder)| + 
422977003 |Congenital anomaly of tooth (disorder)| : 
        { 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)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 38199008 |Tooth structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 770802007 |Nail unit 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
358225014 - Ectodermal dysplasia with tooth-nail defects (en) View
358225014	en	Synonym (core metadata concept)	Ectodermal dysplasia with tooth-nail defects	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
628002010 - Ectodermal dysplasia with tooth-nail defects (disorder) (en) View
628002010	en	Fully specified name (core metadata concept)	Ectodermal dysplasia with tooth-nail defects (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (5003865025) - 239040001 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5031930023) - 239040001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10531067023) - 239040001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10531069021) - 239040001 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (55137026) - 239040001 -> 8654005 (116680003) View
116680003 \|Is a (attribute)\|	8654005 \|Ectodermal dysplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6017431020) - 239040001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12073121023) - 239040001 -> 770802007 (363698007) View
363698007 \|Finding site (attribute)\|	770802007 \|Nail unit structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12073122027) - 239040001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12073123021) - 239040001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12073124026) - 239040001 -> 422977003 (116680003) View
116680003 \|Is a (attribute)\|	422977003 \|Congenital anomaly of tooth (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12073125025) - 239040001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12073126029) - 239040001 -> 38199008 (363698007) View
363698007 \|Finding site (attribute)\|	38199008 \|Tooth structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12073127022) - 239040001 -> 239046007 (116680003) View
116680003 \|Is a (attribute)\|	239046007 \|Ectodermal dysplasia with nail defect (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12073128028) - 239040001 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12073129020) - 239040001 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (530494029) - 239040001 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3347707028) - 239040001 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5031931022) - 239040001 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6017432029) - 239040001 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6034193026) - 239040001 -> 63206006 (363698007) View
363698007 \|Finding site (attribute)\|	63206006 \|Ectoderm structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10531068029) - 239040001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531070022) - 239040001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531071021) - 239040001 -> 63206006 (363698007) View
363698007 \|Finding site (attribute)\|	63206006 \|Ectoderm structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3347706021) - 239040001 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (530495028) - 239040001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (530496027) - 239040001 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2575482020) - 239040001 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1730745020) - 239040001 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
239046007 View
239046007	Ectodermal dysplasia with nail defect (disorder)	Ectodermal dysplasia with nail defect	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
422977003 View
422977003	Congenital anomaly of tooth (disorder)	Congenital anomaly of tooth	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
239015008 View
239015008	Ectodermal dysplasia with hair-tooth-nail defects (disorder)	Ectodermal dysplasia with hair-tooth-nail defects	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
399974001 View
399974001	Ectodermal dysplasia with tooth-nail-sweating defect (disorder)	Ectodermal dysplasia with tooth-nail-sweating defect	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
764995008 View
764995008	Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome (disorder)	Ectodermal dysplasia short stature syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
723584003 View
723584003	Stern lubinsky durrie syndrome (disorder)	Corneodermatoosseous syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720464003 View
720464003	Acro-dermato-ungual-lacrimal-tooth syndrome (disorder)	Acro-dermato-ungual-lacrimal-tooth syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721085000 View
721085000	Deafness, enamel hypoplasia, nail defect syndrome (disorder)	Heimler syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721090002 View
721090002	Dermatoosteolysis kirghizian type (disorder)	Kirghizian dermatoosteolysis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
403764002 View
403764002	Odontomicronychial ectodermal dysplasia (disorder)	Odontomicronychial ectodermal dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
26718008 View
26718008	Robinson nail dystrophy-deafness syndrome (disorder)	Robinson's syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
239021007 View
239021007	Hypodontia and nail dysgenesis (disorder)	Hypodontia and nail dysgenesis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
277807007 View
277807007	Curry-hall syndrome (disorder)	Curry-hall syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (edc9d9a2-305c-589c-a7ab-1c9792fd200e) 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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