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Terminology chevron_right Concepts chevron_right 239076000

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Component

239076000

The component that hold information about this concept.

Fully Specified Name (FSN)

Keratoderma with scleroatrophy of the extremities (disorder)

Shortest Term

Huriez 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

Keratoderma with scleroatrophy of the extremities (disorder)

SCTID: 239076000, Primitive, Active

239076000|Keratoderma with scleroatrophy of the extremities (disorder)|

en Keratoderma with scleroatrophy of extremities
en Palmoplantar hyperkeratosis sclerodactyly syndrome
en Palmoplantar hyperkeratosis sclerodactyly syndrome (disorder)
en Palmoplantar keratoderma sclerodactyly syndrome
en Scleroatrophic syndrome
en Huriez syndrome

Expression

239076000 |Keratoderma with scleroatrophy of the extremities (disorder)|
 <<< 6874009 |Congenital keratoderma (disorder)| + 
199879009 |Congenital anomaly of skin (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
400123002 |Hereditary diffuse palmoplantar keratoderma (disorder)| + 
253966001 |Congenital abnormality of foot and toes (disorder)| + 
34111000 |Congenital anomaly of hand (disorder)| + 
829993001 |Rough skin of hands (finding)| + 
11164009 |Autosomal dominant hereditary disorder (disorder)| : 
        { 363713009 |Has interpretation (attribute)| = 263654008 |Abnormal (qualifier value)|,
363714003 |Interprets (attribute)| = 44138005 |Keratinization, function (observable entity)| }
        { 116676008 |Associated morphology (attribute)| = 26996000 |Hyperkeratosis (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 181566006 |Entire skin of sole of foot (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 26996000 |Hyperkeratosis (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 181544004 |Entire skin of palmar area of hand (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
4590598017 - Keratoderma with scleroatrophy of extremities (en) View
4590598017	en	Synonym (core metadata concept)	Keratoderma with scleroatrophy of extremities	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
358285012 - Keratoderma with scleroatrophy of the extremities (en) View
358285012	en	Synonym (core metadata concept)	Keratoderma with scleroatrophy of the extremities	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	False
628044016 - Keratoderma with scleroatrophy of the extremities (disorder) (en) View
628044016	en	Fully specified name (core metadata concept)	Keratoderma with scleroatrophy of the extremities (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	False
4590597010 - Palmoplantar hyperkeratosis sclerodactyly syndrome (en) View
4590597010	en	Synonym (core metadata concept)	Palmoplantar hyperkeratosis sclerodactyly syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
4590596018 - Palmoplantar hyperkeratosis sclerodactyly syndrome (disorder) (en) View
4590596018	en	Fully specified name (core metadata concept)	Palmoplantar hyperkeratosis sclerodactyly syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
4590599013 - Palmoplantar keratoderma sclerodactyly syndrome (en) View
4590599013	en	Synonym (core metadata concept)	Palmoplantar keratoderma sclerodactyly syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
4590600011 - Scleroatrophic syndrome (en) View
4590600011	en	Synonym (core metadata concept)	Scleroatrophic syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
358286013 - Huriez syndrome (en) View
358286013	en	Synonym (core metadata concept)	Huriez syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (55184026) - 239076000 -> 239073008 (116680003) View
116680003 \|Is a (attribute)\|	239073008 \|Circumscribed palmoplantar keratoderma (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (461638025) - 239076000 -> 26996000 (116676008) View
116676008 \|Associated morphology (attribute)\|	26996000 \|Hyperkeratosis (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (530603020) - 239076000 -> 70887009 (363698007) View
363698007 \|Finding site (attribute)\|	70887009 \|Skin structure of palmar area of hand (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5013182023) - 239076000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5032064022) - 239076000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5032065023) - 239076000 -> 26996000 (116676008) View
116676008 \|Associated morphology (attribute)\|	26996000 \|Hyperkeratosis (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5032066024) - 239076000 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12070048023) - 239076000 -> 26996000 (116676008) View
116676008 \|Associated morphology (attribute)\|	26996000 \|Hyperkeratosis (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12070049026) - 239076000 -> 37136002 (363698007) View
363698007 \|Finding site (attribute)\|	37136002 \|Skin structure of sole of foot (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12854553023) - 239076000 -> 110445001 (116676008) View
116676008 \|Associated morphology (attribute)\|	110445001 \|Focal hyperkeratosis (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12854554028) - 239076000 -> 110445001 (116676008) View
116676008 \|Associated morphology (attribute)\|	110445001 \|Focal hyperkeratosis (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13891189028) - 239076000 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13891191020) - 239076000 -> 400123002 (116680003) View
116680003 \|Is a (attribute)\|	400123002 \|Hereditary diffuse palmoplantar keratoderma (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13891192029) - 239076000 -> 181566006 (363698007) View
363698007 \|Finding site (attribute)\|	181566006 \|Entire skin of sole of foot (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13891193023) - 239076000 -> 181544004 (363698007) View
363698007 \|Finding site (attribute)\|	181544004 \|Entire skin of palmar area of hand (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13891194028) - 239076000 -> 199879009 (116680003) View
116680003 \|Is a (attribute)\|	199879009 \|Congenital anomaly of skin (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13891195027) - 239076000 -> 253966001 (116680003) View
116680003 \|Is a (attribute)\|	253966001 \|Congenital abnormality of foot and toes (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13891196026) - 239076000 -> 34111000 (116680003) View
116680003 \|Is a (attribute)\|	34111000 \|Congenital anomaly of hand (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13891197024) - 239076000 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13891198025) - 239076000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13891199022) - 239076000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13891200020) - 239076000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2199338022) - 239076000 -> 26996000 (116676008) View
116676008 \|Associated morphology (attribute)\|	26996000 \|Hyperkeratosis (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12247527023) - 239076000 -> 829993001 (116680003) View
116680003 \|Is a (attribute)\|	829993001 \|Rough skin of hands (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (1730793025) - 239076000 -> 69707008 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	69707008 \|Abnormal keratinization (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9181618022) - 239076000 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9181619025) - 239076000 -> 44138005 (363714003) View
363714003 \|Interprets (attribute)\|	44138005 \|Keratinization, function (observable entity)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5013184024) - 239076000 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5032063027) - 239076000 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (530607021) - 239076000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1730794020) - 239076000 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3087214026) - 239076000 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3087215025) - 239076000 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2969596023) - 239076000 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2969597025) - 239076000 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2904436025) - 239076000 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2904437023) - 239076000 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2811337029) - 239076000 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2811338023) - 239076000 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2662984024) - 239076000 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2662985020) - 239076000 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2254458028) - 239076000 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2513399021) - 239076000 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (530604025) - 239076000 -> 37136002 (363698007) View
363698007 \|Finding site (attribute)\|	37136002 \|Skin structure of sole of foot (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2220063026) - 239076000 -> 6874009 (116680003) View
116680003 \|Is a (attribute)\|	6874009 \|Congenital keratoderma (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (1689062029) - 239076000 -> 26996000 (116676008) View
116676008 \|Associated morphology (attribute)\|	26996000 \|Hyperkeratosis (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (461639022) - 239076000 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

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
400123002 View
400123002	Hereditary diffuse palmoplantar keratoderma (disorder)	Diffuse palmoplantar keratoderma	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
829993001 View
829993001	Rough skin of hands (finding)	Rough skin of hands	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
6874009 View
6874009	Congenital keratoderma (disorder)	Congenital keratoderma	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
253966001 View
253966001	Congenital abnormality of foot and toes (disorder)	Congenital anomaly of foot	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
199879009 View
199879009	Congenital anomaly of skin (disorder)	Genodermatosis, nos	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
34111000 View
34111000	Congenital anomaly of hand (disorder)	Congenital anomaly of hand	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 (719917b4-3c26-5282-9fe1-ff1a821cdfe7) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q82.8	TRUE	ALWAYS Q82.8	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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