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Terminology chevron_right Concepts chevron_right 719946008

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Component

719946008

The component that hold information about this concept.

Fully Specified Name (FSN)

Tel hashomer camptodactyly syndrome (disorder)

Shortest Term

Tel hashomer camptodactyly 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

Tel hashomer camptodactyly syndrome (disorder)

SCTID: 719946008, Primitive, Active

719946008|Tel hashomer camptodactyly syndrome (disorder)|

en Tel hashomer camptodactyly syndrome
en Tel hashomer camptodactyly syndrome (disorder)

Expression

719946008 |Tel hashomer camptodactyly syndrome (disorder)|
 <<< 23359005 |Multiple malformation syndrome with facial-limb defects as major feature (disorder)| + 
29271008 |Camptodactyly (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
20948006 |Congenital anomaly of finger (disorder)| + 
309463003 |Flexion deformity of hand (finding)| + 
299055007 |Finding of musculoskeletal structure of digit of hand (finding)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
1230354001 |Congenital deformity of hand (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 89545001 |Face 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)| = 7569003 |Finger structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 788600005 |Fixed flexion deformity (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 310792004 |Musculoskeletal structure of digit 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
3318552010 - Tel Hashomer camptodactyly syndrome (en) View
3318552010	en	Synonym (core metadata concept)	Tel Hashomer camptodactyly syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
3318551015 - Tel Hashomer camptodactyly syndrome (disorder) (en) View
3318551015	en	Fully specified name (core metadata concept)	Tel Hashomer camptodactyly syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15230090020) - 719946008 -> 1230354001 (116680003) View
116680003 \|Is a (attribute)\|	1230354001 \|Congenital deformity of hand (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069196026) - 719946008 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12661692022) - 719946008 -> 309463003 (116680003) View
116680003 \|Is a (attribute)\|	309463003 \|Flexion deformity of hand (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12661693028) - 719946008 -> 299055007 (116680003) View
116680003 \|Is a (attribute)\|	299055007 \|Finding of musculoskeletal structure of digit of hand (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10532644020) - 719946008 -> 88565003 (116676008) View
116676008 \|Associated morphology (attribute)\|	88565003 \|Flexion deformity (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12091062027) - 719946008 -> 788600005 (116676008) View
116676008 \|Associated morphology (attribute)\|	788600005 \|Fixed flexion deformity (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11305708026) - 719946008 -> 20948006 (116680003) View
116680003 \|Is a (attribute)\|	20948006 \|Congenital anomaly of finger (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6644610024) - 719946008 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6644611023) - 719946008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6644614026) - 719946008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6644617022) - 719946008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6646377020) - 719946008 -> 7569003 (363698007) View
363698007 \|Finding site (attribute)\|	7569003 \|Finger structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6646965024) - 719946008 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6654941025) - 719946008 -> 88565003 (116676008) View
116676008 \|Associated morphology (attribute)\|	88565003 \|Flexion deformity (morphologic abnormality)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6654942021) - 719946008 -> 310792004 (363698007) View
363698007 \|Finding site (attribute)\|	310792004 \|Musculoskeletal structure of digit of hand (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6669733020) - 719946008 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10532636020) - 719946008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10532637027) - 719946008 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10532640027) - 719946008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10532641028) - 719946008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10532642024) - 719946008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10532643025) - 719946008 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10532645021) - 719946008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10532646022) - 719946008 -> 310792004 (363698007) View
363698007 \|Finding site (attribute)\|	310792004 \|Musculoskeletal structure of digit of hand (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10532647029) - 719946008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539869022) - 719946008 -> 7569003 (363698007) View
363698007 \|Finding site (attribute)\|	7569003 \|Finger structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10549397022) - 719946008 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6644606021) - 719946008 -> 23359005 (116680003) View
116680003 \|Is a (attribute)\|	23359005 \|Multiple malformation syndrome with facial-limb defects as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6644607028) - 719946008 -> 29271008 (116680003) View
116680003 \|Is a (attribute)\|	29271008 \|Camptodactyly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6644608022) - 719946008 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6644609025) - 719946008 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1230354001 View
1230354001	Congenital deformity of hand (disorder)	Congenital deformity of hand	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
29271008 View
29271008	Camptodactyly (disorder)	Camptodactyly	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
299055007 View
299055007	Finding of musculoskeletal structure of digit of hand (finding)	Finding of musculoskeletal structure of digit of hand	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
309463003 View
309463003	Flexion deformity of hand (finding)	Flexion deformity of hand	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
20948006 View
20948006	Congenital anomaly of finger (disorder)	Congenital anomaly of finger	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
23359005 View
23359005	Multiple malformation syndrome with facial-limb defects as major feature (disorder)	Multiple malformation syndrome with facial-limb defects as major feature	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	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 (4fff0f54-1e39-589a-8480-7985292038cd) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q74.0	TRUE	ALWAYS Q74.0 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	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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