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Terminology chevron_right Concepts chevron_right 771261002

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Component

771261002

The component that hold information about this concept.

Fully Specified Name (FSN)

Digital extensor muscle aplasia with polyneuropathy (disorder)

Shortest Term

Hamanishi ueba tsuji 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

Digital extensor muscle aplasia with polyneuropathy (disorder)

SCTID: 771261002, Primitive, Active

771261002|Digital extensor muscle aplasia with polyneuropathy (disorder)|

en Congenital aplasia of extensor muscle of finger and thumb associated with generalised polyneuropathy
en Congenital aplasia of extensor muscle of finger and thumb associated with generalized polyneuropathy
en Digital extensor muscle aplasia with polyneuropathy
en Digital extensor muscle aplasia with polyneuropathy (disorder)
en Hamanishi ueba tsuji syndrome
en Polyneuropathy, hand defect syndrome

Expression

771261002 |Digital extensor muscle aplasia with polyneuropathy (disorder)|
 <<< 398100001 |Hereditary motor and sensory neuropathy (disorder)| + 
257277002 |Combined disorder of muscle and peripheral nerve (disorder)| + 
205532005 |Aplasia of muscle (disorder)| + 
42345000 |Polyneuropathy (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
449682004 |Congenital absence of part of upper limb (disorder)| + 
38776003 |Congenital absence of skeletal muscle (disorder)| + 
1145382006 |Aplasia of limb (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 45486003 |Aplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 714454000 |Structure of extensor muscle of hand (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 84782009 |Peripheral nerve 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
3705331016 - Congenital aplasia of extensor muscle of finger and thumb associated with generalised polyneuropathy (en) View
3705331016	en	Synonym (core metadata concept)	Congenital aplasia of extensor muscle of finger and thumb associated with generalised polyneuropathy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3705330015 - Congenital aplasia of extensor muscle of finger and thumb associated with generalized polyneuropathy (en) View
3705330015	en	Synonym (core metadata concept)	Congenital aplasia of extensor muscle of finger and thumb associated with generalized polyneuropathy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3705327010 - Digital extensor muscle aplasia with polyneuropathy (en) View
3705327010	en	Synonym (core metadata concept)	Digital extensor muscle aplasia with polyneuropathy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3705326018 - Digital extensor muscle aplasia with polyneuropathy (disorder) (en) View
3705326018	en	Fully specified name (core metadata concept)	Digital extensor muscle aplasia with polyneuropathy (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3705329013 - Hamanishi Ueba Tsuji syndrome (en) View
3705329013	en	Synonym (core metadata concept)	Hamanishi Ueba Tsuji syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3705328017 - Polyneuropathy, hand defect syndrome (en) View
3705328017	en	Synonym (core metadata concept)	Polyneuropathy, hand defect syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16245651025) - 771261002 -> 1145382006 (116680003) View
116680003 \|Is a (attribute)\|	1145382006 \|Aplasia of limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9662785022) - 771261002 -> 89886004 (116680003) View
116680003 \|Is a (attribute)\|	89886004 \|Congenital anomaly of skeletal muscle (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11187515024) - 771261002 -> 66510004 (116680003) View
116680003 \|Is a (attribute)\|	66510004 \|Congenital anomaly of upper limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11187516020) - 771261002 -> 449669007 (116680003) View
116680003 \|Is a (attribute)\|	449669007 \|Absence of upper limb (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13069882024) - 771261002 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13183773020) - 771261002 -> 449682004 (116680003) View
116680003 \|Is a (attribute)\|	449682004 \|Congenital absence of part of upper limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13186756026) - 771261002 -> 38776003 (116680003) View
116680003 \|Is a (attribute)\|	38776003 \|Congenital absence of skeletal muscle (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9662774020) - 771261002 -> 398100001 (116680003) View
116680003 \|Is a (attribute)\|	398100001 \|Hereditary motor and sensory neuropathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9662775021) - 771261002 -> 714454000 (363698007) View
363698007 \|Finding site (attribute)\|	714454000 \|Structure of extensor muscle of hand (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9662776022) - 771261002 -> 45486003 (116676008) View
116676008 \|Associated morphology (attribute)\|	45486003 \|Aplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9662777029) - 771261002 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9662779026) - 771261002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9662780028) - 771261002 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9662781029) - 771261002 -> 257277002 (116680003) View
116680003 \|Is a (attribute)\|	257277002 \|Combined disorder of muscle and peripheral nerve (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9662782020) - 771261002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9662783026) - 771261002 -> 84782009 (363698007) View
363698007 \|Finding site (attribute)\|	84782009 \|Peripheral nerve structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9662784021) - 771261002 -> 205532005 (116680003) View
116680003 \|Is a (attribute)\|	205532005 \|Aplasia of muscle (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9662786023) - 771261002 -> 42345000 (116680003) View
116680003 \|Is a (attribute)\|	42345000 \|Polyneuropathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10519323020) - 771261002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10519324025) - 771261002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1145382006 View
1145382006	Aplasia of limb (disorder)	Aplasia of limb	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
205532005 View
205532005	Aplasia of muscle (disorder)	Absent muscle	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
449682004 View
449682004	Congenital absence of part of upper limb (disorder)	Congenital absence of part of upper limb	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
398100001 View
398100001	Hereditary motor and sensory neuropathy (disorder)	Hmsn	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
257277002 View
257277002	Combined disorder of muscle and peripheral nerve (disorder)	Myoneural disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
38776003 View
38776003	Congenital absence of skeletal muscle (disorder)	Congenital absence of skeletal muscle	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
42345000 View
42345000	Polyneuropathy (disorder)	Polyneuropathy	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 (72fc213b-257b-50dd-82db-824c3391c85d) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.8	TRUE	ALWAYS Q87.8 \| 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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