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Terminology chevron_right Concepts chevron_right 1360070001

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Component

1360070001

The component that hold information about this concept.

Fully Specified Name (FSN)

Spastic paraparesis, cataracts, speech delay syndrome (disorder)

Shortest Term

Fatty acyl-coa reductase 1 superactivity

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 paraparesis, cataracts, speech delay syndrome (disorder)

SCTID: 1360070001, Primitive, Active

1360070001|Spastic paraparesis, cataracts, speech delay syndrome (disorder)|

en Fatty acyl-coa reductase 1 superactivity
en Spastic paraparesis, cataracts, speech delay syndrome
en Spastic paraparesis, cataracts, speech delay syndrome (disorder)

Expression

1360070001 |Spastic paraparesis, cataracts, speech delay syndrome (disorder)|
 <<< 1259038005 |Autosomal dominant complex hereditary spastic paraplegia (disorder)| + 
128190004 |Inherited metabolic disorder of nervous system (disorder)| + 
128289001 |Chronic metabolic disorder (disorder)| + 
248290002 |Developmental delay (disorder)| + 
267431006 |Disorder of lipid metabolism (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
363343008 |Hereditary disorder of the visual system (disorder)| + 
95722004 |Bilateral cataracts (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 107669003 |Degenerative abnormality (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 2748008 |Spinal cord structure (body structure)| }
        { 116676008 |Associated morphology (attribute)| = 128305008 |Abnormally opaque structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 72345007 |Structure of lens of right eye (body structure)| }
        { 116676008 |Associated morphology (attribute)| = 128305008 |Abnormally opaque structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 88258005 |Structure of lens of left eye (body structure)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (qualifier value)| }
        { 370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 32153003 |Structure of left lower limb (body structure)| }
        { 363698007 |Finding site (attribute)| = 62175007 |Structure of right lower limb (body structure)| }
        { 363698007 |Finding site (attribute)| = 1264400000 |Structure of motor nervous system (body structure)| }
        { 363713009 |Has interpretation (attribute)| = 2667000 |Absent (qualifier value)|,
363714003 |Interprets (attribute)| = 363847004 |Movement observable (observable entity)| }
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5439596011 - Fatty acyl-CoA reductase 1 superactivity (en) View
5439596011	en	Synonym (core metadata concept)	Fatty acyl-CoA reductase 1 superactivity	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
5439595010 - Spastic paraparesis, cataracts, speech delay syndrome (en) View
5439595010	en	Synonym (core metadata concept)	Spastic paraparesis, cataracts, speech delay syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
5439594014 - Spastic paraparesis, cataracts, speech delay syndrome (disorder) (en) View
5439594014	en	Fully specified name (core metadata concept)	Spastic paraparesis, cataracts, speech delay syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16398410024) - 1360070001 -> 1264400000 (363698007) View
363698007 \|Finding site (attribute)\|	1264400000 \|Structure of motor nervous system (body structure)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299515023) - 1360070001 -> 255324009 (363714003) View
363714003 \|Interprets (attribute)\|	255324009 \|Movement (observable entity)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16299506027) - 1360070001 -> 1259038005 (116680003) View
116680003 \|Is a (attribute)\|	1259038005 \|Autosomal dominant complex hereditary spastic paraplegia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299507020) - 1360070001 -> 128190004 (116680003) View
116680003 \|Is a (attribute)\|	128190004 \|Inherited metabolic disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299508026) - 1360070001 -> 128289001 (116680003) View
116680003 \|Is a (attribute)\|	128289001 \|Chronic metabolic disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299509023) - 1360070001 -> 248290002 (116680003) View
116680003 \|Is a (attribute)\|	248290002 \|Developmental delay (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299510029) - 1360070001 -> 267431006 (116680003) View
116680003 \|Is a (attribute)\|	267431006 \|Disorder of lipid metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299511025) - 1360070001 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299512021) - 1360070001 -> 363343008 (116680003) View
116680003 \|Is a (attribute)\|	363343008 \|Hereditary disorder of the visual system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299513027) - 1360070001 -> 95722004 (116680003) View
116680003 \|Is a (attribute)\|	95722004 \|Bilateral cataracts (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299514022) - 1360070001 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299516024) - 1360070001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	10	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299517026) - 1360070001 -> 32153003 (363698007) View
363698007 \|Finding site (attribute)\|	32153003 \|Structure of left lower limb (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299518020) - 1360070001 -> 62175007 (363698007) View
363698007 \|Finding site (attribute)\|	62175007 \|Structure of right lower limb (body structure)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299519028) - 1360070001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299520023) - 1360070001 -> 363847004 (363714003) View
363714003 \|Interprets (attribute)\|	363847004 \|Movement observable (observable entity)\|	9	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299521022) - 1360070001 -> 2667000 (363713009) View
363713009 \|Has interpretation (attribute)\|	2667000 \|Absent (qualifier value)\|	9	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299522026) - 1360070001 -> 2748008 (363698007) View
363698007 \|Finding site (attribute)\|	2748008 \|Spinal cord structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299523020) - 1360070001 -> 107669003 (116676008) View
116676008 \|Associated morphology (attribute)\|	107669003 \|Degenerative abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299524025) - 1360070001 -> 72345007 (363698007) View
363698007 \|Finding site (attribute)\|	72345007 \|Structure of lens of right eye (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299525029) - 1360070001 -> 128305008 (116676008) View
116676008 \|Associated morphology (attribute)\|	128305008 \|Abnormally opaque structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299526028) - 1360070001 -> 88258005 (363698007) View
363698007 \|Finding site (attribute)\|	88258005 \|Structure of lens of left eye (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16299527021) - 1360070001 -> 128305008 (116676008) View
116676008 \|Associated morphology (attribute)\|	128305008 \|Abnormally opaque structure (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1259038005 View
1259038005	Autosomal dominant complex hereditary spastic paraplegia (disorder)	Autosomal dominant complex hereditary spastic paraplegia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
128190004 View
128190004	Inherited metabolic disorder of nervous system (disorder)	Inherited metabolic disorder of nervous system	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
95722004 View
95722004	Bilateral cataracts (disorder)	Cataracts	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
128289001 View
128289001	Chronic metabolic disorder (disorder)	Chronic metabolic disease	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
248290002 View
248290002	Developmental delay (disorder)	Chậm phát triển	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
267431006 View
267431006	Disorder of lipid metabolism (disorder)	Rối loạn chuyển hóa lipid	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363343008 View
363343008	Hereditary disorder of the visual system (disorder)	Hereditary disorder of the visual 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 (2c8a3957-5e51-5e7c-9159-2195ebe64c0b) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E71.3	TRUE	ALWAYS E71.3 \| 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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