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Terminology chevron_right Concepts chevron_right 239015008

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Language with ID “267f02cd-e88e-514a-b415-4d6c9fca4e0e” doesn’t exist. Perhaps it was deleted?
Extended Map with ID “320de271-e58c-5ffe-8d3d-56ada73d1a4d” doesn’t exist. Perhaps it was deleted?

Component

239015008

The component that hold information about this concept.

Fully Specified Name (FSN)

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

Shortest Term

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

SCTID: 239015008, Defined, Active

239015008|Ectodermal dysplasia with hair-tooth-nail defects (disorder)|

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

Expression

239015008 |Ectodermal dysplasia with hair-tooth-nail defects (disorder)|
 === 239035009 |Ectodermal dysplasia with hair-nail defect (disorder)| + 
239027006 |Ectodermal dysplasia with hair-tooth defects (disorder)| + 
239040001 |Ectodermal dysplasia with tooth-nail defects (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)| = 386045008 |Hair 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
358194013 - Ectodermal dysplasia with hair-tooth-nail defects (en) View
358194013	en	Synonym (core metadata concept)	Ectodermal dysplasia with hair-tooth-nail defects	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
627974012 - Ectodermal dysplasia with hair-tooth-nail defects (disorder) (en) View
627974012	en	Fully specified name (core metadata concept)	Ectodermal dysplasia with hair-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 (55106026) - 239015008 -> 8654005 (116680003) View
116680003 \|Is a (attribute)\|	8654005 \|Ectodermal dysplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5004132027) - 239015008 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6017489025) - 239015008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12073104025) - 239015008 -> 38199008 (363698007) View
363698007 \|Finding site (attribute)\|	38199008 \|Tooth structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12073105029) - 239015008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12073106028) - 239015008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12073107021) - 239015008 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12073108027) - 239015008 -> 239027006 (116680003) View
116680003 \|Is a (attribute)\|	239027006 \|Ectodermal dysplasia with hair-tooth defects (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12073109024) - 239015008 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12073110025) - 239015008 -> 239035009 (116680003) View
116680003 \|Is a (attribute)\|	239035009 \|Ectodermal dysplasia with hair-nail defect (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12073111026) - 239015008 -> 239040001 (116680003) View
116680003 \|Is a (attribute)\|	239040001 \|Ectodermal dysplasia with tooth-nail defects (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12073112022) - 239015008 -> 770802007 (363698007) View
363698007 \|Finding site (attribute)\|	770802007 \|Nail unit structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12073113028) - 239015008 -> 386045008 (363698007) View
363698007 \|Finding site (attribute)\|	386045008 \|Hair structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12073114023) - 239015008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (530398027) - 239015008 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3387179022) - 239015008 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5032046026) - 239015008 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6017490023) - 239015008 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6034573027) - 239015008 -> 63206006 (363698007) View
363698007 \|Finding site (attribute)\|	63206006 \|Ectoderm structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10515650029) - 239015008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10515651025) - 239015008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10515652021) - 239015008 -> 63206006 (363698007) View
363698007 \|Finding site (attribute)\|	63206006 \|Ectoderm structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10515653027) - 239015008 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10515654022) - 239015008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3387178025) - 239015008 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (530400028) - 239015008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5032045027) - 239015008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (530399024) - 239015008 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2575462021) - 239015008 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1730722025) - 239015008 -> 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
239027006 View
239027006	Ectodermal dysplasia with hair-tooth defects (disorder)	Ectodermal dysplasia with hair-tooth defects	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
239040001 View
239040001	Ectodermal dysplasia with tooth-nail defects (disorder)	Ectodermal dysplasia with tooth-nail defects	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
239035009 View
239035009	Ectodermal dysplasia with hair-nail defect (disorder)	Ectodermal dysplasia with hair-nail defect	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1279835008 View
1279835008	Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
239006001 View
239006001	Ectodermal dysplasia with hair-tooth-nail-sweating defect (disorder)	Hypohidrotic ectodermal dysplasia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
786039009 View
786039009	Arthrogryposis and ectodermal dysplasia syndrome (disorder)	Stoll alembik finck syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763620003 View
763620003	Trichodermodysplasia and dental alterations syndrome (disorder)	Pinheiro, freire maia, miranda syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763658004 View
763658004	Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder)	Hopp syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763828007 View
763828007	Odonto onycho dysplasia with alopecia syndrome (disorder)	Odonto-onycho dysplasia alopecia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
766813000 View
766813000	Trichoodontoonychial dysplasia (disorder)	Trichoodontoonychial dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
734018003 View
734018003	Ectodermal dysplasia trichoodontoonychial type (disorder)	Ectodermal dysplasia trichoodontoonychial type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721091003 View
721091003	Dermo-odonto dysplasia (disorder)	Dermo odontodysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722062004 View
722062004	Oculotrichodysplasia (disorder)	Oculotrichodysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
700062000 View
700062000	Schöpf-schulz-passarge syndrome (disorder)	Schöpf schulz passarge syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
403762003 View
403762003	Odonto-onycho-dermal dysplasia (disorder)	Odonto-onycho-dermal dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
18899000 View
18899000	Schinzel-giedion syndrome (disorder)	Schinzel-giedon syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
38993008 View
38993008	Tricho-dento-osseous syndrome (disorder)	Tdo syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
62501005 View
62501005	Chondroectodermal dysplasia (disorder)	Ellis-van creveld syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
239014007 View
239014007	Tricho-onychodental dysplasia (disorder)	Tricho-onychodental dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
239019002 View
239019002	Odonto-onychial dysplasia with alopecia (disorder)	Odonto-onychial dysplasia with alopecia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
239020008 View
239020008	Fried's tooth and nail syndrome (disorder)	Fried tooth and nail syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
239023005 View
239023005	Salamon's syndrome (disorder)	Salamon syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
239024004 View
239024004	Ectodermal dysplasia, syndactyly and pili torti (disorder)	Ectodermal dysplasia, syndactyly and pili torti	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
239025003 View
239025003	Dwarfism, alopecia, pseudoanodontia, cutis laxa (disorder)	Dwarfism, alopecia, pseudoanodontia, cutis laxa	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
239026002 View
239026002	Hypohidrosis-diabetes insipidus syndrome (disorder)	Fleck syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
367520004 View
367520004	Incontinentia pigmenti syndrome (disorder)	Ito's 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 (a14379b2-d372-5e85-8774-b2f563030d85) 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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