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Terminology chevron_right Concepts chevron_right 722209002

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Component

722209002

The component that hold information about this concept.

Fully Specified Name (FSN)

Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder)

Shortest Term

Fitzsimmons mclachlan gilbert 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

Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder)

SCTID: 722209002, Primitive, Active

722209002|Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder)|

en Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
en Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder)
en Fitzsimmons mclachlan gilbert syndrome

Expression

722209002 |Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder)|
 <<< 363070008 |Developmental hereditary disorder (disorder)| + 
239066003 |Hereditary palmoplantar keratoderma (disorder)| + 
363235000 |Hereditary disorder of nervous system (disorder)| + 
1362108000 |Genetic intellectual disability (disorder)| + 
254214009 |Inherited disorder of keratinization (disorder)| + 
192967009 |Spastic paraplegia (disorder)| + 
829993001 |Rough skin of hands (finding)| + 
36755004 |Talipes cavus (disorder) [ambiguous]| + 
1162976004 |X-linked recessive hereditary disease (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 2559001 |Claw-shaped deformity (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 56459004 |Foot structure (body structure)| }
        { 116676008 |Associated morphology (attribute)| = 26996000 |Hyperkeratosis (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 70887009 |Skin structure of palmar area of hand (body structure)| }
        { 116676008 |Associated morphology (attribute)| = 26996000 |Hyperkeratosis (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 37136002 |Skin structure of sole of foot (body structure)| }
        { 363698007 |Finding site (attribute)| = 21483005 |Structure of central nervous system (body structure)| }
        { 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)| }
        { 116676008 |Associated morphology (attribute)| = 6081001 |Deformity (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 344001 |Ankle region structure (body structure)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
363714003 |Interprets (attribute)| = 247573007 |Intellectual ability (observable entity)| }
        { 363698007 |Finding site (attribute)| = 62175007 |Structure of right lower limb (body structure)| }
        { 363713009 |Has interpretation (attribute)| = 2667000 |Absent (qualifier value)|,
363714003 |Interprets (attribute)| = 363847004 |Movement observable (observable entity)| }
        { 363698007 |Finding site (attribute)| = 1264400000 |Structure of motor nervous system (body structure)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
363714003 |Interprets (attribute)| = 406208005 |Adaptation behavior (observable entity)| }
        { 363698007 |Finding site (attribute)| = 32153003 |Structure of left lower limb (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3331164011 - Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (en) View
3331164011	en	Synonym (core metadata concept)	Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3331163017 - Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) (en) View
3331163017	en	Fully specified name (core metadata concept)	Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3331161015 - Fitzsimmons McLachlan Gilbert syndrome (en) View
3331161015	en	Synonym (core metadata concept)	Fitzsimmons McLachlan Gilbert syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16398159025) - 722209002 -> 1264400000 (363698007) View
363698007 \|Finding site (attribute)\|	1264400000 \|Structure of motor nervous system (body structure)\|	11	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15277118022) - 722209002 -> 255324009 (363714003) View
363714003 \|Interprets (attribute)\|	255324009 \|Movement (observable entity)\|	11	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9127938024) - 722209002 -> 110359009 (116680003) View
116680003 \|Is a (attribute)\|	110359009 \|Intellectual disability\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16316766021) - 722209002 -> 1362108000 (116680003) View
116680003 \|Is a (attribute)\|	1362108000 \|Genetic intellectual disability (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096435026) - 722209002 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	9	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15096436025) - 722209002 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	9	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15277121024) - 722209002 -> 363847004 (363714003) View
363714003 \|Interprets (attribute)\|	363847004 \|Movement observable (observable entity)\|	10	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15277122028) - 722209002 -> 2667000 (363713009) View
363713009 \|Has interpretation (attribute)\|	2667000 \|Absent (qualifier value)\|	10	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15320817029) - 722209002 -> 62175007 (363698007) View
363698007 \|Finding site (attribute)\|	62175007 \|Structure of right lower limb (body structure)\|	9	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15320818023) - 722209002 -> 32153003 (363698007) View
363698007 \|Finding site (attribute)\|	32153003 \|Structure of left lower limb (body structure)\|	13	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15320931028) - 722209002 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	12	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15320932024) - 722209002 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	12	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095071025) - 722209002 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095072021) - 722209002 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6794320023) - 722209002 -> 128430005 (116680003) View
116680003 \|Is a (attribute)\|	128430005 \|X-linked hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6794321022) - 722209002 -> 192949002 (116680003) View
116680003 \|Is a (attribute)\|	192949002 \|Congenital paraplegia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6794332022) - 722209002 -> 26996000 (116676008) View
116676008 \|Associated morphology (attribute)\|	26996000 \|Hyperkeratosis (morphologic abnormality)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6794333028) - 722209002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6794334023) - 722209002 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13910013023) - 722209002 -> 1162976004 (116680003) View
116680003 \|Is a (attribute)\|	1162976004 \|X-linked recessive hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13910018025) - 722209002 -> 36755004 (116680003) View
116680003 \|Is a (attribute)\|	36755004 \|Talipes cavus (disorder) [ambiguous]\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13910019022) - 722209002 -> 829993001 (116680003) View
116680003 \|Is a (attribute)\|	829993001 \|Rough skin of hands (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13910020027) - 722209002 -> 44138005 (363714003) View
363714003 \|Interprets (attribute)\|	44138005 \|Keratinization, function (observable entity)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13910021028) - 722209002 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13910022024) - 722209002 -> 56459004 (363698007) View
363698007 \|Finding site (attribute)\|	56459004 \|Foot structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13910023025) - 722209002 -> 2559001 (116676008) View
116676008 \|Associated morphology (attribute)\|	2559001 \|Claw-shaped deformity (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13910024020) - 722209002 -> 344001 (363698007) View
363698007 \|Finding site (attribute)\|	344001 \|Ankle region structure (body structure)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13910025021) - 722209002 -> 6081001 (116676008) View
116676008 \|Associated morphology (attribute)\|	6081001 \|Deformity (morphologic abnormality)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13910026022) - 722209002 -> 254214009 (116680003) View
116680003 \|Is a (attribute)\|	254214009 \|Inherited disorder of keratinization (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069371020) - 722209002 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6794327021) - 722209002 -> 61685007 (363698007) View
363698007 \|Finding site (attribute)\|	61685007 \|Lower limb structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9224856025) - 722209002 -> 44138005 (363714003) View
363714003 \|Interprets (attribute)\|	44138005 \|Keratinization, function (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9224857023) - 722209002 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12091519024) - 722209002 -> 26996000 (116676008) View
116676008 \|Associated morphology (attribute)\|	26996000 \|Hyperkeratosis (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12091520029) - 722209002 -> 26996000 (116676008) View
116676008 \|Associated morphology (attribute)\|	26996000 \|Hyperkeratosis (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12091521025) - 722209002 -> 70887009 (363698007) View
363698007 \|Finding site (attribute)\|	70887009 \|Skin structure of palmar area of hand (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12091522021) - 722209002 -> 37136002 (363698007) View
363698007 \|Finding site (attribute)\|	37136002 \|Skin structure of sole of foot (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6794324025) - 722209002 -> 363185004 (116680003) View
116680003 \|Is a (attribute)\|	363185004 \|Hereditary disorder of the integument (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6794326028) - 722209002 -> 21483005 (363698007) View
363698007 \|Finding site (attribute)\|	21483005 \|Structure of central nervous system (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11572461026) - 722209002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6794319028) - 722209002 -> 91138005 (116680003) View
116680003 \|Is a (attribute)\|	91138005 \|Mental retardation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6794328027) - 722209002 -> 69707008 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	69707008 \|Abnormal keratinization (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6794329024) - 722209002 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6794330025) - 722209002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6794331026) - 722209002 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6794322026) - 722209002 -> 192967009 (116680003) View
116680003 \|Is a (attribute)\|	192967009 \|Spastic paraplegia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6794323020) - 722209002 -> 239066003 (116680003) View
116680003 \|Is a (attribute)\|	239066003 \|Hereditary palmoplantar keratoderma (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6794325029) - 722209002 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1362108000 View
1362108000	Genetic intellectual disability (disorder)	Genetic intellectual disability	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1162976004 View
1162976004	X-linked recessive hereditary disease (disorder)	X-linked recessive hereditary disease	900000000000074008 \|Necessary but not sufficient concept 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
829993001 View
829993001	Rough skin of hands (finding)	Rough skin of hands	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
36755004 View
36755004	Talipes cavus (disorder) [ambiguous]	Clawfoot	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
239066003 View
239066003	Hereditary palmoplantar keratoderma (disorder)	Hereditary palmoplantar keratoderma	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
192967009 View
192967009	Spastic paraplegia (disorder)	Spastic paraplegia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363235000 View
363235000	Hereditary disorder of nervous system (disorder)	Hereditary disorder of nervous 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 (1174ec02-ee99-5252-b7e7-78e887da193f) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G82.1	TRUE	ALWAYS G82.1 \| 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)\|
ExtendedMap object (9ba06d52-73b6-55be-a068-76145a44f43a) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	F79.9	TRUE	ALWAYS F79.9	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)\|
ExtendedMap object (b05a6f6c-8c6e-5e58-a698-5e82eb08963c) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q82.8	TRUE	ALWAYS Q82.8	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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