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Terminology chevron_right Concepts chevron_right 394910004

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Component

394910004

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital malformation of thumb (disorder)

Shortest Term

Congenital anomaly of thumb

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

Congenital malformation of thumb (disorder)

SCTID: 394910004, Defined, Active

394910004|Congenital malformation of thumb (disorder)|

en Congenital anomaly of thumb
en Congenital malformation of thumb
en Congenital malformation of thumb (disorder)

Expression

394910004 |Congenital malformation of thumb (disorder)|
 === 403855001 |Congenital anomaly of digit (disorder)| + 
313134005 |Finding of thumb (finding)| + 
34111000 |Congenital anomaly of hand (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 76505004 |Thumb 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
3006593019 - Congenital anomaly of thumb (en) View
3006593019	en	Synonym (core metadata concept)	Congenital anomaly of thumb	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1488614011 - Congenital malformation of thumb (en) View
1488614011	en	Synonym (core metadata concept)	Congenital malformation of thumb	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1468850012 - Congenital malformation of thumb (disorder) (en) View
1468850012	en	Fully specified name (core metadata concept)	Congenital malformation of thumb (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (3800125023) - 394910004 -> 76505004 (363698007) View
363698007 \|Finding site (attribute)\|	76505004 \|Thumb structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4980624029) - 394910004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4980625028) - 394910004 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5008338028) - 394910004 -> 76505004 (363698007) View
363698007 \|Finding site (attribute)\|	76505004 \|Thumb structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6145848025) - 394910004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10528965025) - 394910004 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10528966029) - 394910004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2026785021) - 394910004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3773475020) - 394910004 -> 253970009 (116680003) View
116680003 \|Is a (attribute)\|	253970009 \|Perodactylia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3800124022) - 394910004 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5008335025) - 394910004 -> 403855001 (116680003) View
116680003 \|Is a (attribute)\|	403855001 \|Congenital anomaly of digit (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3790305028) - 394910004 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3790306027) - 394910004 -> 76505004 (363698007) View
363698007 \|Finding site (attribute)\|	76505004 \|Thumb structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3343993029) - 394910004 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3343994024) - 394910004 -> 85562004 (363698007) View
363698007 \|Finding site (attribute)\|	85562004 \|Hand structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3773476021) - 394910004 -> 313134005 (116680003) View
116680003 \|Is a (attribute)\|	313134005 \|Finding of thumb (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2026783025) - 394910004 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2026786022) - 394910004 -> 85562004 (363698007) View
363698007 \|Finding site (attribute)\|	85562004 \|Hand structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2026784020) - 394910004 -> 34111000 (116680003) View
116680003 \|Is a (attribute)\|	34111000 \|Congenital anomaly of hand (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
403855001 View
403855001	Congenital anomaly of digit (disorder)	Perodactylia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
313134005 View
313134005	Finding of thumb (finding)	Finding of thumb	900000000000073002 \|Sufficiently defined by necessary conditions 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
897269004 View
897269004	Abnormally short first metacarpal (disorder)	Shortened first metacarpal	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
897342003 View
897342003	Abnormally short phalanx of thumb (disorder)	Shortened phalanx of thumb	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
895646009 View
895646009	Congenital abnormal triangular shape of phalanx of thumb (disorder)	Triangular shaped phalanx of thumb	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
896910009 View
896910009	Congenital abnormal broad shape of distal phalanx of thumb (disorder)	Broad shaped distal phalanx of thumb	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
896912001 View
896912001	Congenital abnormal broad shape of proximal phalanx of thumb (disorder)	Broad shaped proximal phalanx of thumb	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
897006003 View
897006003	Congenital abnormal bullet shape of phalanx of thumb (disorder)	Bullet shaped phalanx of thumb	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
898264007 View
898264007	Congenital ankylosis of interphalangeal joint of thumb (disorder)	Symphalangism of interphalangeal joint of thumb	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
205135003 View
205135003	Radial polydactyly (disorder)	Accessory thumb	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
838441009 View
838441009	Intellectual disability, aphasia, shuffling gait, adducted thumbs syndrome (disorder)	Masa syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
770438007 View
770438007	Infantile spasm and broad thumb syndrome (disorder)	Tsao ellingson syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733117001 View
733117001	Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)	Piussan lenaerts mathieu syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733454004 View
733454004	Long thumb brachydactyly syndrome (disorder)	Brachydactyly long thumb type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719305006 View
719305006	Stapes ankylosis with broad thumb and toe syndrome (disorder)	Teunissen cremers syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720463009 View
720463009	Adducted thumbs and arthrogryposis syndrome christian type (disorder)	Adducted thumbs and arthrogryposis syndrome christian type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721874001 View
721874001	Juberg hayward syndrome (disorder)	Juberg hayward syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721976003 View
721976003	Lung agenesis with heart defect and thumb anomaly syndrome (disorder)	Mardini nyhan syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
51219000 View
51219000	Bifid thumb (disorder)	Bifid thumb	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
253933000 View
253933000	Macrodactyly of the thumb (disorder)	Macrodactyly of thumb	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
253936008 View
253936008	Hypoplasia of thumb (disorder)	Hypoplastic thumb	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
253972001 View
253972001	Syndactyly of the thumb (disorder)	Syndactyly of thumb	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
270963009 View
270963009	Congenital absence of thumb (disorder)	Congenital absence of thumb	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
205273005 View
205273005	Thumb in palm deformity (disorder)	Thumb in palm deformity	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 (45101b2a-fe96-5a3a-805f-fbba6b4ee94a) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q74.0	TRUE	ALWAYS Q74.0	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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