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Terminology chevron_right Concepts chevron_right 890439005

Production

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Component

890439005

The component that hold information about this concept.

Fully Specified Name (FSN)

Brachydactyly type d (disorder)

Shortest Term

Brachydactyly type d

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

Brachydactyly type d (disorder)

SCTID: 890439005, Primitive, Active

890439005|Brachydactyly type d (disorder)|

en Brachydactyly type d
en Brachydactyly type d (disorder)

Expression

890439005 |Brachydactyly type d (disorder)|
 <<< 11164009 |Autosomal dominant hereditary disorder (disorder)| + 
716636008 |Longitudinal deficiency of part of upper limb (disorder)| + 
43476002 |Brachydactyly (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
253946005 |Congenital undergrowth of partial lower limb (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
897340006 |Abnormally short distal phalanx of thumb (disorder)| + 
897452003 |Abnormally short distal phalanx of great toe (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 11182007 |Abnormally short growth (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 13829006 |Bone structure of distal phalanx of thumb (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 11182007 |Abnormally short growth (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 53075003 |Structure of distal phalanx of great toe (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
4012574018 - Brachydactyly type D (en) View
4012574018	en	Synonym (core metadata concept)	Brachydactyly type D	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
4012572019 - Brachydactyly type D (disorder) (en) View
4012572019	en	Fully specified name (core metadata concept)	Brachydactyly type D (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13020096022) - 890439005 -> 299043001 (116680003) View
116680003 \|Is a (attribute)\|	299043001 \|Finding of bone in hand (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13020100023) - 890439005 -> 8447006 (116680003) View
116680003 \|Is a (attribute)\|	8447006 \|Congenital anomaly of skeletal bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13020129020) - 890439005 -> 394910004 (116680003) View
116680003 \|Is a (attribute)\|	394910004 \|Congenital malformation of thumb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13020130026) - 890439005 -> 726117003 (116680003) View
116680003 \|Is a (attribute)\|	726117003 \|Congenital deformity of toe (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13020131027) - 890439005 -> 299130003 (116680003) View
116680003 \|Is a (attribute)\|	299130003 \|Deformity of thumb (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13020133029) - 890439005 -> 299128000 (116680003) View
116680003 \|Is a (attribute)\|	299128000 \|Finding of musculoskeletal structure of thumb (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13020134024) - 890439005 -> 271100003 (116680003) View
116680003 \|Is a (attribute)\|	271100003 \|Deformity of phalanx of toe (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13020135020) - 890439005 -> 205351000 (116680003) View
116680003 \|Is a (attribute)\|	205351000 \|Perodactylia of great toe (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15230101025) - 890439005 -> 1230354001 (116680003) View
116680003 \|Is a (attribute)\|	1230354001 \|Congenital deformity of hand (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16176242025) - 890439005 -> 1344689004 (116680003) View
116680003 \|Is a (attribute)\|	1344689004 \|Congenital deformity of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16344707021) - 890439005 -> 897340006 (116680003) View
116680003 \|Is a (attribute)\|	897340006 \|Abnormally short distal phalanx of thumb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16344708027) - 890439005 -> 897452003 (116680003) View
116680003 \|Is a (attribute)\|	897452003 \|Abnormally short distal phalanx of great toe (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13020095021) - 890439005 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13020098023) - 890439005 -> 716636008 (116680003) View
116680003 \|Is a (attribute)\|	716636008 \|Longitudinal deficiency of part of upper limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13020102026) - 890439005 -> 43476002 (116680003) View
116680003 \|Is a (attribute)\|	43476002 \|Brachydactyly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13020104025) - 890439005 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13020105029) - 890439005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13020106028) - 890439005 -> 11182007 (116676008) View
116676008 \|Associated morphology (attribute)\|	11182007 \|Abnormally short growth (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13020108027) - 890439005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13020132023) - 890439005 -> 253946005 (116680003) View
116680003 \|Is a (attribute)\|	253946005 \|Congenital undergrowth of partial lower limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13020136021) - 890439005 -> 13829006 (363698007) View
363698007 \|Finding site (attribute)\|	13829006 \|Bone structure of distal phalanx of thumb (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13020137028) - 890439005 -> 53075003 (363698007) View
363698007 \|Finding site (attribute)\|	53075003 \|Structure of distal phalanx of great toe (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13020138022) - 890439005 -> 11182007 (116676008) View
116676008 \|Associated morphology (attribute)\|	11182007 \|Abnormally short growth (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13020139025) - 890439005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13020140028) - 890439005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13070060020) - 890439005 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
897340006 View
897340006	Abnormally short distal phalanx of thumb (disorder)	Shortened distal phalanx of thumb	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
897452003 View
897452003	Abnormally short distal phalanx of great toe (disorder)	Short distal phalanx of hallux	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
716636008 View
716636008	Longitudinal deficiency of part of upper limb (disorder)	Congenital shortening of part of upper limb	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
253946005 View
253946005	Congenital undergrowth of partial lower limb (disorder)	Congenital undergrowth of partial lower limb	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
43476002 View
43476002	Brachydactyly (disorder)	Brachydactyly	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 (1100c275-a58e-50a5-a6aa-a457df06da68) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q73.8	TRUE	ALWAYS Q73.8	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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