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Terminology chevron_right Concepts chevron_right 237984008

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Component

237984008

The component that hold information about this concept.

Fully Specified Name (FSN)

Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)

Shortest Term

Narp 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

Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)

SCTID: 237984008, Primitive, Active

237984008|Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)|

en Narp (neurogenic muscle weakness, ataxia, retinitis pigmentosa) syndrome
en Narp syndrome
en Neurogenic muscle weakness, ataxia and retinitis pigmentosa
en Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)

Expression

237984008 |Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)|
 <<< 1363509005 |Mitochondrially encoded atp synthase membrane subunit 6-related mitochondrial disease (disorder)| + 
28835009 |Retinitis pigmentosa (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
41786007 |Neurological muscle weakness (finding)| + 
763597000 |Hereditary ataxia (disorder)| + 
1137511009 |Progressive weakness of muscle (finding)| + 
237981000 |Disorder of pyruvate metabolism and mitochondrial respiratory chain (disorder)| + 
128190004 |Inherited metabolic disorder of nervous system (disorder)| + 
128237006 |Chronic disease of musculoskeletal system (disorder)| + 
128283000 |Chronic nervous system disorder (disorder)| + 
128289001 |Chronic metabolic disorder (disorder)| + 
257277002 |Combined disorder of muscle and peripheral nerve (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 4720007 |Dystrophy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 5665001 |Retinal structure (body structure)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 127954009 |Skeletal muscle structure (body structure)| }
        { 363698007 |Finding site (attribute)| = 3058005 |Peripheral nervous system structure (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
356687018 - NARP - Neurogenic muscle weakness, ataxia and retinitis pigmentosa (en) View
356687018	en	Synonym (core metadata concept)	NARP - Neurogenic muscle weakness, ataxia and retinitis pigmentosa	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
5283905019 - NARP (neurogenic muscle weakness, ataxia, retinitis pigmentosa) syndrome (en) View
5283905019	en	Synonym (core metadata concept)	NARP (neurogenic muscle weakness, ataxia, retinitis pigmentosa) syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
5283906018 - NARP syndrome (en) View
5283906018	en	Synonym (core metadata concept)	NARP syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
356686010 - Neurogenic muscle weakness, ataxia and retinitis pigmentosa (en) View
356686010	en	Synonym (core metadata concept)	Neurogenic muscle weakness, ataxia and retinitis pigmentosa	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
626798015 - Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder) (en) View
626798015	en	Fully specified name (core metadata concept)	Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15806879028) - 237984008 -> 1162975000 (116680003) View
116680003 \|Is a (attribute)\|	1162975000 \|Maternally inherited mitochondrial deoxyribonucleic acid disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16331816029) - 237984008 -> 1363509005 (116680003) View
116680003 \|Is a (attribute)\|	1363509005 \|Mitochondrially encoded atp synthase membrane subunit 6-related mitochondrial disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16286733025) - 237984008 -> 1137511009 (116680003) View
116680003 \|Is a (attribute)\|	1137511009 \|Progressive weakness of muscle (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15806880025) - 237984008 -> 128190004 (116680003) View
116680003 \|Is a (attribute)\|	128190004 \|Inherited metabolic disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15806881026) - 237984008 -> 128237006 (116680003) View
116680003 \|Is a (attribute)\|	128237006 \|Chronic disease of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15806882022) - 237984008 -> 128283000 (116680003) View
116680003 \|Is a (attribute)\|	128283000 \|Chronic nervous system disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15806883028) - 237984008 -> 128289001 (116680003) View
116680003 \|Is a (attribute)\|	128289001 \|Chronic metabolic disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15806884023) - 237984008 -> 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 (15806885024) - 237984008 -> 28835009 (116680003) View
116680003 \|Is a (attribute)\|	28835009 \|Retinitis pigmentosa (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15806886020) - 237984008 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15806887027) - 237984008 -> 41786007 (116680003) View
116680003 \|Is a (attribute)\|	41786007 \|Neurological muscle weakness (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15806888021) - 237984008 -> 763597000 (116680003) View
116680003 \|Is a (attribute)\|	763597000 \|Hereditary ataxia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15806889029) - 237984008 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15806890022) - 237984008 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15806891021) - 237984008 -> 3058005 (363698007) View
363698007 \|Finding site (attribute)\|	3058005 \|Peripheral nervous system structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15806892025) - 237984008 -> 5665001 (363698007) View
363698007 \|Finding site (attribute)\|	5665001 \|Retinal structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15806893024) - 237984008 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (526983021) - 237984008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (526984026) - 237984008 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (53617026) - 237984008 -> 237981000 (116680003) View
116680003 \|Is a (attribute)\|	237981000 \|Disorder of pyruvate metabolism and mitochondrial respiratory chain (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1363509005 View
1363509005	Mitochondrially encoded atp synthase membrane subunit 6-related mitochondrial disease (disorder)	Mt-atp6 mitochondrial disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1137511009 View
1137511009	Progressive weakness of muscle (finding)	Yếu tiến triển cơ (phát hiện)	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
763597000 View
763597000	Hereditary ataxia (disorder)	Hereditary ataxia	900000000000073002 \|Sufficiently defined by necessary conditions 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
28835009 View
28835009	Retinitis pigmentosa (disorder)	Viêm võng mạc sắc tố	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
41786007 View
41786007	Neurological muscle weakness (finding)	Neurological muscle paresis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
128237006 View
128237006	Chronic disease of musculoskeletal system (disorder)	Chronic musculoskeletal disease	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
128283000 View
128283000	Chronic nervous system disorder (disorder)	Chronic nervous system disease	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
237981000 View
237981000	Disorder of pyruvate metabolism and mitochondrial respiratory chain (disorder)	Disorder of pyruvate metabolism and mitochondrial respiratory chain	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 (2b75a0c0-cc93-5f75-b093-5f70b8e08e80) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E74.4	TRUE	ALWAYS E74.4	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 (a8d65744-0192-5463-8375-bc2388a2f66c) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E88.8	TRUE	ALWAYS E88.8 \| 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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