dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 703528008

Production

add

Component

703528008

The component that hold information about this concept.

Fully Specified Name (FSN)

Cutis gyrata syndrome of beare and stevenson (disorder)

Shortest Term

Beare-stevenson cutis gyrata 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

Cutis gyrata syndrome of beare and stevenson (disorder)

SCTID: 703528008, Primitive, Active

703528008|Cutis gyrata syndrome of beare and stevenson (disorder)|

en Cutis gyrata, acanthosis nigricans, craniosynostosis syndrome
en Beare-stevenson cutis gyrata syndrome
en Cutis gyrata syndrome of beare and stevenson
en Cutis gyrata syndrome of beare and stevenson (disorder)

Expression

703528008 |Cutis gyrata syndrome of beare and stevenson (disorder)|
 <<< 254214009 |Inherited disorder of keratinization (disorder)| + 
402599005 |Acanthosis nigricans (disorder)| + 
11164009 |Autosomal dominant hereditary disorder (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
199879009 |Congenital anomaly of skin (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
57219006 |Craniosynostosis syndrome (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)| = 1297034009 |Premature fusion (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 51863000 |Joint structure of suture of skull (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)| = 44138005 |Keratinization, function (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
4029018019 - Cutis gyrata, acanthosis nigricans, craniosynostosis syndrome (en) View
4029018019	en	Synonym (core metadata concept)	Cutis gyrata, acanthosis nigricans, craniosynostosis syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3009171017 - Beare-Stevenson cutis gyrata syndrome (en) View
3009171017	en	Synonym (core metadata concept)	Beare-Stevenson cutis gyrata syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3009081015 - Cutis gyrata syndrome of Beare and Stevenson (en) View
3009081015	en	Synonym (core metadata concept)	Cutis gyrata syndrome of Beare and Stevenson	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
3009385019 - Cutis gyrata syndrome of Beare and Stevenson (disorder) (en) View
3009385019	en	Fully specified name (core metadata concept)	Cutis gyrata syndrome of Beare and Stevenson (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (5050139022) - 703528008 -> 67798003 (116676008) View
116676008 \|Associated morphology (attribute)\|	67798003 \|Congenital premature fusion (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15839112026) - 703528008 -> 1297034009 (116676008) View
116676008 \|Associated morphology (attribute)\|	1297034009 \|Premature fusion (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5046445023) - 703528008 -> 363185004 (116680003) View
116680003 \|Is a (attribute)\|	363185004 \|Hereditary disorder of the integument (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13042551020) - 703528008 -> 254214009 (116680003) View
116680003 \|Is a (attribute)\|	254214009 \|Inherited disorder of keratinization (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13042552029) - 703528008 -> 402599005 (116680003) View
116680003 \|Is a (attribute)\|	402599005 \|Acanthosis nigricans (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13042553023) - 703528008 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13042554028) - 703528008 -> 44138005 (363714003) View
363714003 \|Interprets (attribute)\|	44138005 \|Keratinization, function (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069830022) - 703528008 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5994311023) - 703528008 -> 89546000 (363698007) View
363698007 \|Finding site (attribute)\|	89546000 \|Bone structure of cranium (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5046450028) - 703528008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5050141023) - 703528008 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5050142027) - 703528008 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5994310024) - 703528008 -> 363045008 (116680003) View
116680003 \|Is a (attribute)\|	363045008 \|Connective tissue hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10516543025) - 703528008 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10516544020) - 703528008 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10516545021) - 703528008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10516546022) - 703528008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10516547029) - 703528008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5046442021) - 703528008 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5046443027) - 703528008 -> 199879009 (116680003) View
116680003 \|Is a (attribute)\|	199879009 \|Congenital anomaly of skin (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5046444022) - 703528008 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5046446024) - 703528008 -> 57219006 (116680003) View
116680003 \|Is a (attribute)\|	57219006 \|Craniosynostosis syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5046447026) - 703528008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5050140024) - 703528008 -> 51863000 (363698007) View
363698007 \|Finding site (attribute)\|	51863000 \|Joint structure of suture of skull (body structure)\|	2	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
57219006 View
57219006	Craniosynostosis syndrome (disorder)	Craniostosis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
254214009 View
254214009	Inherited disorder of keratinization (disorder)	Inherited disorder of keratinisation	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
402599005 View
402599005	Acanthosis nigricans (disorder)	Acanthosis nigricans	900000000000074008 \|Necessary but not sufficient concept 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
363212003 View
363212003	Hereditary disorder of musculoskeletal system (disorder)	Hereditary disorder of musculoskeletal system	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 (479a1b95-da80-5bde-8962-83ee1514a98c) 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)\|

Terminology chevron_right Concepts chevron_right 703528008

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches