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Terminology chevron_right Concepts chevron_right 239010003

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Component

239010003

The component that hold information about this concept.

Fully Specified Name (FSN)

Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia (disorder)

Shortest Term

Alopecia, onychodysplasia, hypohidrosis, deafness 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

Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia (disorder)

SCTID: 239010003, Primitive, Active

239010003|Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia (disorder)|

en Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia
en Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia (disorder)

Expression

239010003 |Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia (disorder)|
 <<< 239006001 |Ectodermal dysplasia with hair-tooth-nail-sweating defect (disorder)| + 
402775007 |Genetic disorder of nail (disorder)| + 
95827002 |Congenital hearing disorder (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)| = 770802007 |Nail unit 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)| }
        { 363713009 |Has interpretation (attribute)| = 263654008 |Abnormal (qualifier value)|,
363714003 |Interprets (attribute)| = 415691001 |Sweating, function (observable entity)| }
        { 363698007 |Finding site (attribute)| = 91159003 |Structure of auditory system (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363714003 |Interprets (attribute)| = 47078008 |Hearing, function (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
358188017 - Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia (en) View
358188017	en	Synonym (core metadata concept)	Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
627968012 - Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia (disorder) (en) View
627968012	en	Fully specified name (core metadata concept)	Alopecia, onychodysplasia, hypohidrosis, deafness 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 (12252842026) - 239010003 -> 402775007 (116680003) View
116680003 \|Is a (attribute)\|	402775007 \|Genetic disorder of nail (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12252843020) - 239010003 -> 95827002 (116680003) View
116680003 \|Is a (attribute)\|	95827002 \|Congenital hearing disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12252844025) - 239010003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12252845029) - 239010003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12252846028) - 239010003 -> 91159003 (363698007) View
363698007 \|Finding site (attribute)\|	91159003 \|Structure of auditory system (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12252847021) - 239010003 -> 47078008 (363714003) View
363714003 \|Interprets (attribute)\|	47078008 \|Hearing, function (observable entity)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5004870026) - 239010003 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6017687020) - 239010003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12069873028) - 239010003 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12069874023) - 239010003 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12069875024) - 239010003 -> 38199008 (363698007) View
363698007 \|Finding site (attribute)\|	38199008 \|Tooth structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12069876020) - 239010003 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12069877027) - 239010003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12069878021) - 239010003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12069879029) - 239010003 -> 415691001 (363714003) View
363714003 \|Interprets (attribute)\|	415691001 \|Sweating, function (observable entity)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12069880026) - 239010003 -> 386045008 (363698007) View
363698007 \|Finding site (attribute)\|	386045008 \|Hair structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12069881027) - 239010003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12069882023) - 239010003 -> 770802007 (363698007) View
363698007 \|Finding site (attribute)\|	770802007 \|Nail unit structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (530378021) - 239010003 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3388077020) - 239010003 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5032469023) - 239010003 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6017688026) - 239010003 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6035726029) - 239010003 -> 63206006 (363698007) View
363698007 \|Finding site (attribute)\|	63206006 \|Ectoderm structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10533068022) - 239010003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10533069025) - 239010003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10533070029) - 239010003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539936021) - 239010003 -> 63206006 (363698007) View
363698007 \|Finding site (attribute)\|	63206006 \|Ectoderm structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539937028) - 239010003 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3388076027) - 239010003 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (530376020) - 239010003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5032468026) - 239010003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (530377027) - 239010003 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2575457020) - 239010003 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1730717025) - 239010003 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (55099029) - 239010003 -> 239006001 (116680003) View
116680003 \|Is a (attribute)\|	239006001 \|Ectodermal dysplasia with hair-tooth-nail-sweating defect (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
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
402775007 View
402775007	Genetic disorder of nail (disorder)	Genetic disorder of nail	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
95827002 View
95827002	Congenital hearing disorder (disorder)	Congenital hearing disorder	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 (0b4ec1e2-b144-5115-b3fb-621a537b6a95) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.8	TRUE	ALWAYS Q87.8	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)\|

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