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Terminology chevron_right Concepts chevron_right 724769002

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Component

724769002

The component that hold information about this concept.

Fully Specified Name (FSN)

Ataxia co-occurrent and due to phytanic acid storage disease (disorder)

Shortest Term

Ataxia with refsum disease

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

Ataxia co-occurrent and due to phytanic acid storage disease (disorder)

SCTID: 724769002, Primitive, Active

724769002|Ataxia co-occurrent and due to phytanic acid storage disease (disorder)|

en Ataxia with refsum disease
en Ataxia co-occurrent and due to phytanic acid storage disease
en Ataxia co-occurrent and due to phytanic acid storage disease (disorder)

Expression

724769002 |Ataxia co-occurrent and due to phytanic acid storage disease (disorder)|
 <<< 87536007 |Central nervous system complication (disorder)| + 
25362006 |Phytanic acid storage disease (disorder)| + 
763597000 |Hereditary ataxia (disorder)| + 
1153623003 |Disorder of nerve due to metabolic disease (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 4720007 |Dystrophy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 389080008 |White matter structure of brain and spinal cord (body structure)| }
        { 42752001 |Due to (attribute)| = 25362006 |Phytanic acid storage disease (disorder)| }
        { 116676008 |Associated morphology (attribute)| = 125495003 |Myelin sheath alteration (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 54115001 |Myelinated nerve fiber structure (body structure)| }
        { 363698007 |Finding site (attribute)| = 3058005 |Peripheral nervous system structure (body structure)| }
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 4720007 |Dystrophy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 5665001 |Retinal structure (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3445807010 - Ataxia with Refsum disease (en) View
3445807010	en	Synonym (core metadata concept)	Ataxia with Refsum disease	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
3445806018 - Ataxia co-occurrent and due to phytanic acid storage disease (en) View
3445806018	en	Synonym (core metadata concept)	Ataxia co-occurrent and due to phytanic acid storage disease	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3445805019 - Ataxia co-occurrent and due to phytanic acid storage disease (disorder) (en) View
3445805019	en	Fully specified name (core metadata concept)	Ataxia co-occurrent and due to phytanic acid storage disease (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13951588021) - 724769002 -> 87536007 (116680003) View
116680003 \|Is a (attribute)\|	87536007 \|Central nervous system complication (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13779965027) - 724769002 -> 1153623003 (116680003) View
116680003 \|Is a (attribute)\|	1153623003 \|Disorder of nerve due to metabolic disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6920405027) - 724769002 -> 25362006 (42752001) View
42752001 \|Due to (attribute)\|	25362006 \|Phytanic acid storage disease (disorder)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6920408025) - 724769002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6920409022) - 724769002 -> 3058005 (363698007) View
363698007 \|Finding site (attribute)\|	3058005 \|Peripheral nervous system structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6920406026) - 724769002 -> 20262006 (116680003) View
116680003 \|Is a (attribute)\|	20262006 \|Ataxia (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6920410028) - 724769002 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6920411029) - 724769002 -> 125495003 (116676008) View
116676008 \|Associated morphology (attribute)\|	125495003 \|Myelin sheath alteration (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6920412020) - 724769002 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9142263025) - 724769002 -> 763597000 (116680003) View
116680003 \|Is a (attribute)\|	763597000 \|Hereditary ataxia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9474112027) - 724769002 -> 54115001 (363698007) View
363698007 \|Finding site (attribute)\|	54115001 \|Myelinated nerve fiber structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9474113021) - 724769002 -> 125495003 (116676008) View
116676008 \|Associated morphology (attribute)\|	125495003 \|Myelin sheath alteration (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9503023024) - 724769002 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9503024029) - 724769002 -> 389080008 (363698007) View
363698007 \|Finding site (attribute)\|	389080008 \|White matter structure of brain and spinal cord (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6920407024) - 724769002 -> 25362006 (116680003) View
116680003 \|Is a (attribute)\|	25362006 \|Phytanic acid storage disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6920413026) - 724769002 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6920414021) - 724769002 -> 5665001 (363698007) View
363698007 \|Finding site (attribute)\|	5665001 \|Retinal structure (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1153623003 View
1153623003	Disorder of nerve due to metabolic disease (disorder)	Metabolic neuropathy	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
87536007 View
87536007	Central nervous system complication (disorder)	Central nervous system complication	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
25362006 View
25362006	Phytanic acid storage disease (disorder)	Hmsn iv	900000000000074008 \|Necessary but not sufficient concept 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 (a572de27-c859-5efa-8d16-8e2c08cb180f) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	R27.0	TRUE	ALWAYS R27.0	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 (c9e0e77b-f6c5-5463-855b-25a9268c00d5) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G60.1	TRUE	ALWAYS G60.1	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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